http://identifiers.org/exac.variant/19-34934811-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934811
    reference: chr 19
allele count: 7
allele frequency: 5.769769703763538e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.356C>A
  hgvsp: ENSP00000437484.1:p.Ala119Asp
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*199C>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.560C>A
  hgvsp: ENSP00000467433.2:p.Ala187Asp
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.644C>A
  hgvsp: ENSP00000246548.3:p.Ala215Asp
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8719
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala215Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-34934816-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934816
    reference: chr 19
allele count: 6
allele frequency: 4.946087644673064e-5
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565T>C
  hgvsp: ENSP00000467433.2:p.Trp189Arg
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361T>C
  hgvsp: ENSP00000437484.1:p.Trp121Arg
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649T>C
  hgvsp: ENSP00000246548.3:p.Trp217Arg
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13300
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp217Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

19-34934819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934819
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934819
    reference: chr 19
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565+3G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204+3G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361+3G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649+3G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5115
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 5304
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: c.649+3G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

19-34934833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934833
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934833
    reference: chr 19
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649+17G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204+17G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361+17G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565+17G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8666
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4430
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-34934835-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934835
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934835
    reference: chr 19
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361+19A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204+19A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565+19A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649+19A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5295
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

19-34934844-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934844
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934844
    reference: chr 19
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361+28A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649+28A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565+28A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204+28A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9067
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4418
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

19-34934848-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934848
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934848
    reference: chr 19
allele count: 1
allele frequency: 8.260639703938672e-6
allele num: 121056
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361+32G>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565+32G>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204+32G>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649+32G>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5114
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17439
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

19-34934854-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934854
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934854
    reference: chr 19
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649+38A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361+38A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565+38A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204+38A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7157
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-34934857-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934857
    reference: chr 19
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649+41A>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361+41A>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565+41A>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204+41A>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13276
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

19-34934858-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34934858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34934858
    reference: chr 19
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.649+42T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*204+42T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.565+42T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.361+42T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13278
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

19-34935855-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935855
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935855
    reference: chr 19
allele count: 2
allele frequency: 1.676867611302088e-5
allele num: 119270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.566-50T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.362-50T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.650-50T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*205-50T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  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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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-34935858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935858
    reference: chr 19
allele count: 1
allele frequency: 8.384619254439656e-6
allele num: 119266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.362-47G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.566-47G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.650-47G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*205-47G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 3.25e1
  variant carriers: 0
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: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
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genotype quality: GenotypeQuality
  all individuals: 3874
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

19-34935863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935863
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935863
    reference: chr 19
allele count: 1
allele frequency: 8.380403265005112e-6
allele num: 119326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*205-42A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.362-42A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.650-42A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.566-42A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22994
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1083
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4414
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-34935873-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935873
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935873
    reference: chr 19
allele count: 16
allele frequency: 1.340213093881927e-4
allele num: 119384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*205-32C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.650-32C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.362-32C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.566-32C>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23013
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4292
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 10925
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

19-34935891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935891
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935891
    reference: chr 19
allele count: 3
allele frequency: 2.493931433511788e-5
allele num: 120292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.362-14T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.566-14T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.650-14T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*205-14T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 586
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3934
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 77
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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: 2785
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

19-34935895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935895
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935895
    reference: chr 19
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.650-10C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.362-10C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.566-10C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*205-10C>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23034
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4472
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

19-34935896-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935896
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935896
    reference: chr 19
allele count: 2
allele frequency: 1.657962364254331e-5
allele num: 120630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*205-9G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.362-9G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.566-9G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.650-9G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9719
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23034
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

19-34935912-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935912
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935912
    reference: chr 19
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*212A>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.573A>T
  hgvsp: ENST00000590048.2:c.573A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.657A>T
  hgvsp: ENST00000246548.4:c.657A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.369A>T
  hgvsp: ENST00000439527.2:c.369A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4488
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23040
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4376
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro219Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

19-34935914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935914
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935914
    reference: chr 19
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.371C>T
  hgvsp: ENSP00000437484.1:p.Thr124Met
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.659C>T
  hgvsp: ENSP00000246548.3:p.Thr220Met
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.575C>T
  hgvsp: ENSP00000467433.2:p.Thr192Met
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*214C>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5151
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr220Met
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

19-34935915-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935915
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935915
    reference: chr 19
allele count: 7
allele frequency: 5.775672865888876e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.372G>A
  hgvsp: ENST00000439527.2:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.576G>A
  hgvsp: ENST00000590048.2:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*215G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.660G>A
  hgvsp: ENST00000246548.4:c.660G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2807
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr220Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-34935922-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935922
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935922
    reference: chr 19
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.379G>C
  hgvsp: ENSP00000437484.1:p.Glu127Gln
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.667G>C
  hgvsp: ENSP00000246548.3:p.Glu223Gln
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.583G>C
  hgvsp: ENSP00000467433.2:p.Glu195Gln
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*222G>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10527
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu223Gln
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-34935927-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935927
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935927
    reference: chr 19
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.672C>T
  hgvsp: ENST00000246548.4:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.384C>T
  hgvsp: ENST00000439527.2:c.384C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.588C>T
  hgvsp: ENST00000590048.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*227C>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4483
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala224Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

19-34935938-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935938
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935938
    reference: chr 19
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.395C>G
  hgvsp: ENSP00000437484.1:p.Ala132Gly
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.683C>G
  hgvsp: ENSP00000246548.3:p.Ala228Gly
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.599C>G
  hgvsp: ENSP00000467433.2:p.Ala200Gly
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*238C>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23037
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14232
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala228Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-34935945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935945
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935945
    reference: chr 19
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.606T>C
  hgvsp: ENST00000590048.2:c.606T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.402T>C
  hgvsp: ENST00000439527.2:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*245T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.690T>C
  hgvsp: ENST00000246548.4:c.690T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10426
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23039
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn230Asn
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

19-34935958-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935958
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935958
    reference: chr 19
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.619A>G
  hgvsp: ENSP00000467433.2:p.Ile207Val
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.415A>G
  hgvsp: ENSP00000437484.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.703A>G
  hgvsp: ENSP00000246548.3:p.Ile235Val
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*258A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile235Val
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: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-34935961-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935961
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935961
    reference: chr 19
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.706A>G
  hgvsp: ENSP00000246548.3:p.Lys236Glu
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.622A>G
  hgvsp: ENSP00000467433.2:p.Lys208Glu
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.418A>G
  hgvsp: ENSP00000437484.1:p.Lys140Glu
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*261A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10431
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys236Glu
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: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP

19-34935996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935996
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935996
    reference: chr 19
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.741T>C
  hgvsp: ENST00000246548.4:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.453T>C
  hgvsp: ENST00000439527.2:c.453T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.657T>C
  hgvsp: ENST00000590048.2:c.657T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*296T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2734
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr247Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-34935999-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34935999
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34935999
    reference: chr 19
allele count: 18
allele frequency: 1.484658528538436e-4
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*299A>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.456A>C
  hgvsp: ENST00000439527.2:c.456A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.744A>C
  hgvsp: ENST00000246548.4:c.744A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.660A>C
  hgvsp: ENST00000590048.2:c.660A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10430
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4406
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2796
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14091
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3940
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly248Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

19-34936014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936014
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936014
    reference: chr 19
allele count: 3
allele frequency: 2.480445818795165e-5
allele num: 120946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.675A>G
  hgvsp: ENST00000590048.2:c.675A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*314A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.471A>G
  hgvsp: ENST00000439527.2:c.471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.759A>G
  hgvsp: ENST00000246548.4:c.759A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4479
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys253Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

19-34936020-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936020
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936020
    reference: chr 19
allele count: 50
allele frequency: 4.145043357153516e-4
allele num: 120626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*320T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.765T>C
  hgvsp: ENST00000246548.4:c.765T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.477T>C
  hgvsp: ENST00000439527.2:c.477T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.681T>C
  hgvsp: ENST00000590048.2:c.681T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10466
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5086
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe255Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-34936031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936031
    reference: chr 19
allele count: 1
allele frequency: 8.330001332800213e-6
allele num: 120048
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+5G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+5G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+5G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+5G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6878
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5055
  bin: 6.75e1
  variant carriers: 0
hgvs: c.771+5G>A
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

19-34936037-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936037
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936038
    reference: chr 19
allele count: 2
allele frequency: 1.672045078335312e-5
allele num: 119614
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+18dupT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+18dupT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+18dupT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+18dupT
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3937
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

19-34936056-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936056
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936056
    reference: chr 19
allele count: 1
allele frequency: 8.414108777598277e-6
allele num: 118848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+30T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+30T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+30T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+30T>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4456
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23017
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

19-34936062-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936062
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936062
    reference: chr 19
allele count: 3
allele frequency: 2.530364372469636e-5
allele num: 118560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+36T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+36T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+36T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+36T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9040
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23011
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4706
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-34936063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936063
    reference: chr 19
allele count: 9
allele frequency: 7.60225026607876e-5
allele num: 118386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+37A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+37A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+37A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+37A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23018
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-34936063-ATTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936060
    reference: chr 19
allele count: 1
allele frequency: 8.44694474008751e-6
allele num: 118386
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+42_771+44delTGT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+42_*326+44delTGT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+42_687+44delTGT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+42_483+44delTGT
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2997
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23018
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3933
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: ATTG
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

19-34936065-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936065
    reference: chr 19
allele count: 1
allele frequency: 8.449799739746167e-6
allele num: 118346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+39T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+39T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+39T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+39T>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8925
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-34936070-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936070
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936070
    reference: chr 19
allele count: 5
allele frequency: 4.241025989007261e-5
allele num: 117896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+44T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+44T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+44T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+44T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9938
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 470
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genotype quality: GenotypeQuality
  all individuals: 2030
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genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4270
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genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 222
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genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 238
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genotype quality: GenotypeQuality
  all individuals: 23012
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2559
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

19-34936076-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34936076
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34936076
    reference: chr 19
allele count: 1
allele frequency: 8.504124500382685e-6
allele num: 117590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*326+50G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.483+50G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.687+50G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.771+50G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4452
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23008
  bin: 9.75e1
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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: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
  all individuals: 2562
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

19-34941123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941123
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941123
    reference: chr 19
allele count: 2
allele frequency: 1.659365458648613e-5
allele num: 120528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-47T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-47T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-47T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-47T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
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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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genotype quality: GenotypeQuality
  all individuals: 859
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

19-34941131-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941131
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941131
    reference: chr 19
allele count: 1
allele frequency: 8.292011476143882e-6
allele num: 120598
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-39G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-39G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-39G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-39G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP

19-34941136-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941136
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941136
    reference: chr 19
allele count: 2
allele frequency: 1.657934876318058e-5
allele num: 120632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-34A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-34A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-34A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-34A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6718
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

19-34941139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941139
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941139
    reference: chr 19
allele count: 2
allele frequency: 1.657797450307521e-5
allele num: 120642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-31G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-31G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-31G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-31G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
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genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD

19-34941150-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941150
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941150
    reference: chr 19
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-20A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-20A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-20A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-20A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25635
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45550
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-34941150-ATCTG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941150
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941146
    reference: chr 19
allele count: 2
allele frequency: 1.654588173003739e-5
allele num: 120876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-16_772-13delGTCT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-16_484-13delGTCT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-16_*327-13delGTCT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-16_688-13delGTCT
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6799
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6050
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: ATCTG
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-34941152-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941152
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941152
    reference: chr 19
allele count: 1
allele frequency: 8.27034090345204e-6
allele num: 120914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-18C>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-18C>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-18C>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-18C>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25689
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

19-34941153-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941153
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941153
    reference: chr 19
allele count: 1
allele frequency: 8.268836409340477e-6
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-17T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-17T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-17T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-17T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45764
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6056
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-34941158-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941158
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941158
    reference: chr 19
allele count: 8
allele frequency: 6.609276119033063e-5
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-12T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-12T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-12T>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-12T>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 91
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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
  all individuals: 80
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 106
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genotype quality: GenotypeQuality
  all individuals: 225
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
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genotype quality: GenotypeQuality
  all individuals: 1411
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-34941164-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941164
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941164
    reference: chr 19
allele count: 1
allele frequency: 8.256138438929344e-6
allele num: 121122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-6T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-6T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-6T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-6T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 9.75e1
  variant carriers: 1
hgvs: c.772-6T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/19-34941167-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941167
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941167
    reference: chr 19
allele count: 18
allele frequency: 1.48558977914232e-4
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.484-3A>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.688-3A>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*327-3A>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.772-3A>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46298
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3377
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.772-3A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-34941175-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941175
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941175
    reference: chr 19
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.489T>C
  hgvsp: ENST00000439527.2:c.489T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.777T>C
  hgvsp: ENST00000246548.4:c.777T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*332T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.693T>C
  hgvsp: ENST00000590048.2:c.693T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe259Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

19-34941185-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941185
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941185
    reference: chr 19
allele count: 2
allele frequency: 1.648723063986942e-5
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.787A>G
  hgvsp: ENSP00000246548.3:p.Ile263Val
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*342A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.499A>G
  hgvsp: ENSP00000437484.1:p.Ile167Val
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.703A>G
  hgvsp: ENSP00000467433.2:p.Ile235Val
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile263Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

19-34941190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941190
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941190
    reference: chr 19
allele count: 126
allele frequency: 1.038729781866746e-3
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*347G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.708G>A
  hgvsp: ENST00000590048.2:c.708G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.504G>A
  hgvsp: ENST00000439527.2:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.2G>A
  hgvsp: ENST00000591016.1:c.2G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.792G>A
  hgvsp: ENST00000246548.4:c.792G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22559
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26238
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 9.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg264Arg
num of homozygotes: 2
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-34941194-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941194
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941194
    reference: chr 19
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.508C>G
  hgvsp: ENSP00000437484.1:p.Leu170Val
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*351C>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.6C>G
  hgvsp: ENSP00000468756.1:p.Leu3Val
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.712C>G
  hgvsp: ENSP00000467433.2:p.Leu238Val
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.796C>G
  hgvsp: ENSP00000246548.3:p.Leu266Val
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu266Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

19-34941214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941214
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941214
    reference: chr 19
allele count: 3
allele frequency: 2.473941153186436e-5
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.26A>G
  hgvsp: ENST00000591016.1:c.26A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.732A>G
  hgvsp: ENST00000590048.2:c.732A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.816A>G
  hgvsp: ENST00000246548.4:c.816A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.528A>G
  hgvsp: ENST00000439527.2:c.528A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*371A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu272Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-34941218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941218
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941218
    reference: chr 19
allele count: 9
allele frequency: 7.423415100875964e-5
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.30C>T
  hgvsp: ENSP00000468756.1:p.Arg11Trp
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*375C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.820C>T
  hgvsp: ENSP00000246548.3:p.Arg274Trp
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.532C>T
  hgvsp: ENSP00000437484.1:p.Arg178Trp
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.736C>T
  hgvsp: ENSP00000467433.2:p.Arg246Trp
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg274Trp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

19-34941219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941219
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941219
    reference: chr 19
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*376G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.737G>A
  hgvsp: ENSP00000467433.2:p.Arg246Gln
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.821G>A
  hgvsp: ENSP00000246548.3:p.Arg274Gln
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.31G>A
  hgvsp: ENSP00000468756.1:p.Arg11Gln
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.533G>A
  hgvsp: ENSP00000437484.1:p.Arg178Gln
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6006
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg274Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

19-34941225-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941225
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941225
    reference: chr 19
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.827G>C
  hgvsp: ENSP00000246548.3:p.Arg276Thr
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*382G>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.539G>C
  hgvsp: ENSP00000437484.1:p.Arg180Thr
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.743G>C
  hgvsp: ENSP00000467433.2:p.Arg248Thr
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.37G>C
  hgvsp: ENSP00000468756.1:p.Arg13Thr
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg276Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD

19-34941241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941241
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941241
    reference: chr 19
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.53G>A
  hgvsp: ENST00000591016.1:c.53G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*398G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.843G>A
  hgvsp: ENST00000246548.4:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.555G>A
  hgvsp: ENST00000439527.2:c.555G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.759G>A
  hgvsp: ENST00000590048.2:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3275
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro281Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

19-34941242-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941242
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941242
    reference: chr 19
allele count: 1
allele frequency: 8.286789200656313e-6
allele num: 120674
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.760T>C
  hgvsp: ENST00000590048.2:c.760T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.556T>C
  hgvsp: ENST00000439527.2:c.556T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.844T>C
  hgvsp: ENST00000246548.4:c.844T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*399T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.54T>C
  hgvsp: ENST00000591016.1:c.54T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5858
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu282Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

19-34941257-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941257
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941257
    reference: chr 19
allele count: 3
allele frequency: 2.51846877098724e-5
allele num: 119120
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.859G>C
  hgvsp: ENSP00000246548.3:p.Val287Leu
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*414G>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000467433
  ensembl transcript: ENST00000590048
  gene symbol: UBA2
  hgvsc: ENST00000590048.2:c.775G>C
  hgvsp: ENSP00000467433.2:p.Val259Leu
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.69G>C
  hgvsp: ENSP00000468756.1:p.Val24Leu
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.571G>C
  hgvsp: ENSP00000437484.1:p.Val191Leu
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25859
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val287Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-34941275-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941275
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941275
    reference: chr 19
allele count: 1
allele frequency: 8.734845043848922e-6
allele num: 114484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+6G>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+6G>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+6G>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+6G>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22342
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 3.75e1
  variant carriers: 0
hgvs: c.871+6G>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-34941287-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941287
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941287
    reference: chr 19
allele count: 2
allele frequency: 1.810249633424449e-5
allele num: 110482
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+18G>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+18G>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+18G>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+18G>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16616
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4572
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 25852
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

19-34941289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941289
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941289
    reference: chr 19
allele count: 1
allele frequency: 9.141937725120216e-6
allele num: 109386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+20C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+20C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+20C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+20C>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 5.75e1
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genotype quality: GenotypeQuality
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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
  all individuals: 21603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

19-34941290-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941290
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941290
    reference: chr 19
allele count: 1
allele frequency: 9.137426900584795e-6
allele num: 109440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+21T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+21T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+21T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+21T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10353
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-34941293-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941293
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941293
    reference: chr 19
allele count: 1
allele frequency: 9.227305442264749e-6
allele num: 108374
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+24G>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+24G>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+24G>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+24G>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19110
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9284
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12652
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

19-34941294-A-ATTCTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941294
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941300
    reference: chr 19
allele count: 1
allele frequency: 9.216419973825367e-6
allele num: 108502
alternate allele: ATTCTTT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+25_871+26insTTCTTT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+25_583+26insTTCTTT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+25_*426+26insTTCTTT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+25_81+26insTTCTTT
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16471
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-34941296-CACCTAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941296
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941290
    reference: chr 19
allele count: 1
allele frequency: 9.270418095856123e-6
allele num: 107870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+28_583+33delACCTAA
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+28_871+33delACCTAA
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+28_81+33delACCTAA
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+28_*426+33delACCTAA
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20118
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3010
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5923
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: CACCTAA
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-34941297-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941297
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941297
    reference: chr 19
allele count: 1
allele frequency: 9.297482241808919e-6
allele num: 107556
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+28A>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+28A>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+28A>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+28A>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

19-34941297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941297
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941297
    reference: chr 19
allele count: 15
allele frequency: 1.394622336271338e-4
allele num: 107556
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+28A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+28A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+28A>G
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+28A>G
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11094
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8388
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20618
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17098
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6176
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

19-34941298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941298
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941298
    reference: chr 19
allele count: 18
allele frequency: 1.677008217340265e-4
allele num: 107334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+29C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+29C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+29C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+29C>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20975
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6690
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10696
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8073
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5013
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 17244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

19-34941312-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941312
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941311
    reference: chr 19
allele count: 1
allele frequency: 1.004197545741198e-5
allele num: 99582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+44delT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+44delT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+44delT
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+44delT
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14821
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: AT
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

19-34941313-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941313
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941313
    reference: chr 19
allele count: 1
allele frequency: 1.003814495081309e-5
allele num: 99620
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+44T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+44T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+44T>C
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+44T>C
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21352
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9187
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9099
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6010
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  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: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

19-34941317-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941317
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941317
    reference: chr 19
allele count: 2
allele frequency: 2.115596175002115e-5
allele num: 94536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+48C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+48C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+48C>T
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+48C>T
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20190
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3640
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3239
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1845
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2692
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8972
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5899
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

19-34941318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34941318
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 34941318
    reference: chr 19
allele count: 9
allele frequency: 9.500886749429947e-5
allele num: 94728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468538
  ensembl transcript: ENST00000586313
  gene symbol: UBA2
  hgvsc: ENST00000586313.1:c.*426+49G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000246548
  ensembl transcript: ENST00000246548
  gene symbol: UBA2
  hgvsc: ENST00000246548.4:c.871+49G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000437484
  ensembl transcript: ENST00000439527
  gene symbol: UBA2
  hgvsc: ENST00000439527.2:c.583+49G>A
  variant of: http://identifiers.org/hgnc/30661
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126261
  ensembl protein: ENSP00000468756
  ensembl transcript: ENST00000591016
  gene symbol: UBA2
  hgvsc: ENST00000591016.1:c.81+49G>A
  variant of: http://identifiers.org/hgnc/30661
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20285
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6769
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 13303
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 20210
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497885993583016e-5
allele num: 66698
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.134e1

DP
type: SiteQuality
SIO_000300: 2.271288e6

FS
type: SiteQuality
SIO_000300: 1.225e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.326e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.27e-1

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20151
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8715
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.99685110211426e-5
allele num: 66690
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.270745e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.881e0

FS
type: SiteQuality
SIO_000300: 1.306e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 13295
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20149
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.895e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 8.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

DP
type: SiteQuality
SIO_000300: 2.270405e6

FS
type: SiteQuality
SIO_000300: 1.161e0

VQSLOD
type: SiteQuality
SIO_000300: -5.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

GenotypeQuality
all individuals: 13294
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 6.111e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.236e0

DP
type: SiteQuality
SIO_000300: 2.266676e6

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

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

GenotypeQuality
all individuals: 3395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4429
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.302e1

FS
type: SiteQuality
SIO_000300: 2.201e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 2.264508e6

GenotypeQuality
all individuals: 17773
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 2.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 5.122e0

DP
type: SiteQuality
SIO_000300: 2.246985e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.92e0

MQRankSum
type: SiteQuality
SIO_000300: 1.55e0

QD
type: SiteQuality
SIO_000300: 1.627e1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13283
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.240892e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.27e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

MQ
type: SiteQuality
SIO_000300: 5.856e1

VQSLOD
type: SiteQuality
SIO_000300: -8.381999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

GenotypeQuality
all individuals: 910
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3144
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1704
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10216
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.614e0

QD
type: SiteQuality
SIO_000300: 1.649e1

VQSLOD
type: SiteQuality
SIO_000300: -1.621e0

DP
type: SiteQuality
SIO_000300: 2.207743e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
all individuals: 14379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504347564461293e-5
allele num: 66474
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

DP
type: SiteQuality
SIO_000300: 2.201928e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.882e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e0

QD
type: SiteQuality
SIO_000300: 1.499e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.9e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5094
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504800312998465e-5
allele num: 66454
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10218
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.092e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.86e-1

DP
type: SiteQuality
SIO_000300: 2.196938e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

QD
type: SiteQuality
SIO_000300: 1.191e1

GenotypeQuality
all individuals: 205
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4276
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3879
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.301236174365647e-4
allele num: 15370
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.61e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

FS
type: SiteQuality
SIO_000300: 1.308e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 2.231026e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeQuality
all individuals: 624
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8063
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10086
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 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: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.233933e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

QD
type: SiteQuality
SIO_000300: 1.615e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.161e0

GenotypeQuality
all individuals: 563
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66146
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15394
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.027e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 2.240299e6

FS
type: SiteQuality
SIO_000300: 9.002000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.076e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

GenotypeQuality
all individuals: 4916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2553
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 15
allele frequency: 1.297353399065906e-3
allele num: 11562
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.910802775024777e-5
allele num: 10090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.253e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

FS
type: SiteQuality
SIO_000300: 7.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.257229e6

GenotypeQuality
all individuals: 4352
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10194
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.518480585595084e-5
allele num: 66394
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.648e0

FS
type: SiteQuality
SIO_000300: 1.2707e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

DP
type: SiteQuality
SIO_000300: 2.281944e6

QD
type: SiteQuality
SIO_000300: 1.158e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3935
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66466
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.286993e6

FS
type: SiteQuality
SIO_000300: 1.857e0

QD
type: SiteQuality
SIO_000300: 1.105e1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00815209216978e-5
allele num: 66486
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.328e1

DP
type: SiteQuality
SIO_000300: 2.288701e6

VQSLOD
type: SiteQuality
SIO_000300: -3.085e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 1.6966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.583e0

VQSLOD
type: SiteQuality
SIO_000300: -1.51e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e0

FS
type: SiteQuality
SIO_000300: 2.501e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 7.34e0

DP
type: SiteQuality
SIO_000300: 2.297347e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4480
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

FS
type: SiteQuality
SIO_000300: 5.394e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 2.298237e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23039
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.503902029055108e-5
allele num: 66632
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214329083181542e-4
allele num: 16470
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.101e1

VQSLOD
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.176e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

DP
type: SiteQuality
SIO_000300: 2.298513e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.81e-1

GenotypeQuality
all individuals: 4375
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.823e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e0

QD
type: SiteQuality
SIO_000300: 1.287e1

DP
type: SiteQuality
SIO_000300: 2.299206e6

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 4.756e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

GenotypeQuality
all individuals: 14186
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3941
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

DP
type: SiteQuality
SIO_000300: 2.299528e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.033e0

QD
type: SiteQuality
SIO_000300: 1.083e1

VQSLOD
type: SiteQuality
SIO_000300: -1.715e0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4485
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.300142e6

QD
type: SiteQuality
SIO_000300: 1.636e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4376
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5193
bin: 6.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 2.300175e6

MQRankSum
type: SiteQuality
SIO_000300: 8.33e-1

FS
type: SiteQuality
SIO_000300: 1.969e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeQuality
all individuals: 4482
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23039
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5193
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.896e0

MQRankSum
type: SiteQuality
SIO_000300: -1.445e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.342000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

DP
type: SiteQuality
SIO_000300: 2.300372e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.95e-1

GenotypeQuality
all individuals: 23039
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4378
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.491e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.295e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.04e-2

FS
type: SiteQuality
SIO_000300: 4.776e0

DP
type: SiteQuality
SIO_000300: 2.300393e6

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

GenotypeQuality
all individuals: 4376
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2801
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.605e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.409e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 2.299272e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.83e-1

GenotypeQuality
all individuals: 2577
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23048
bin: 9.75e1
variant carriers: 18

Latino
type: Population
allele count: 2
allele frequency: 1.728011059270779e-4
allele num: 11574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21580547112462e-4
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.950370570408377e-4
allele num: 66654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.299372e6

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.19e-2

GenotypeQuality
all individuals: 5138
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2578
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23039
bin: 9.75e1
variant carriers: 3

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.929012345679012e-4
allele num: 10368
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16270
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.561e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 8.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 2.293677e6

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

GenotypeQuality
all individuals: 2573
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23055
bin: 9.75e1
variant carriers: 50

GenotypeQuality
all individuals: 126
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 795
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 7.071284566545302e-4
allele num: 66466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16078
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.57e0

QD
type: SiteQuality
SIO_000300: 1.402e1

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.289501e6

GenotypeQuality
all individuals: 23025
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.486e0

DP
type: SiteQuality
SIO_000300: 2.275258e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.831e0

VQSLOD
type: SiteQuality
SIO_000300: -1.334e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15480
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66170
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.265565e6

FS
type: SiteQuality
SIO_000300: 4.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQ
type: SiteQuality
SIO_000300: 6.009e1

QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14978
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515840533575868e-5
allele num: 65970
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 1.0707e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 8.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

DP
type: SiteQuality
SIO_000300: 2.235577e6

VQSLOD
type: SiteQuality
SIO_000300: -1.327e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 832
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.551799478060327e-5
allele num: 65908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14778
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.341e1

DP
type: SiteQuality
SIO_000300: 2.229484e6

MQ
type: SiteQuality
SIO_000300: 5.837e1

FS
type: SiteQuality
SIO_000300: 6.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.79e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.057459328487366e-4
allele num: 11556
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.81663258350375e-5
allele num: 14670
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 4.394e0

DP
type: SiteQuality
SIO_000300: 2.226959e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

GenotypeQuality
all individuals: 150
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variant carriers: 0

GenotypeQuality
all individuals: 4446
bin: 8.25e1
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GenotypeQuality
all individuals: 900
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518233990222573e-5
allele num: 65866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14670
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

QD
type: SiteQuality
SIO_000300: 1.238e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

FS
type: SiteQuality
SIO_000300: 4.394e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 2.226959e6

GenotypeQuality
all individuals: 4643
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23009
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 887
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65844
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.46e-1

QD
type: SiteQuality
SIO_000300: 1.67e0

FS
type: SiteQuality
SIO_000300: 2.635e0

VQSLOD
type: SiteQuality
SIO_000300: -3.851e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.855e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.301e0

DP
type: SiteQuality
SIO_000300: 2.226616e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4437
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4456
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14368
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.605488120227556e-5
allele num: 65742
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.209e1

DP
type: SiteQuality
SIO_000300: 2.221299e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 6.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.431e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4399
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14178
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65680
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.219078e6

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.345e0

VQSLOD
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.359603586597452e-4
allele num: 8476
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66234
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.414e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.11e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.654291e6

FS
type: SiteQuality
SIO_000300: 1.487e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.670801e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3379
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 2
allele frequency: 1.736111111111111e-4
allele num: 11520
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.679535e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.372e0

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 779
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

FS
type: SiteQuality
SIO_000300: 5.172e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.684867e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1443
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734304543877905e-4
allele num: 11532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66438
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.571e1

MQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

DP
type: SiteQuality
SIO_000300: 1.698232e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 6.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.737e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010325416177489e-5
allele num: 66438
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.94e-1

QD
type: SiteQuality
SIO_000300: 1.571e1

MQ
type: SiteQuality
SIO_000300: 5.737e1

FS
type: SiteQuality
SIO_000300: 6.8e0

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

DP
type: SiteQuality
SIO_000300: 1.698232e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66456
num of homozygotes: 0

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

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

Latino
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allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e-1

FS
type: SiteQuality
SIO_000300: 1.1665e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.278e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.2e-2

DP
type: SiteQuality
SIO_000300: 1.699499e6

MQRankSum
type: SiteQuality
SIO_000300: -1.876e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504438092372499e-5
allele num: 66470
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.700154e6

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

QD
type: SiteQuality
SIO_000300: 1.377e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.892402622445044e-4
allele num: 10372
num of homozygotes: 0

East Asian
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allele count: 5
allele frequency: 5.813953488372093e-4
allele num: 8600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

DP
type: SiteQuality
SIO_000300: 1.703361e6

FS
type: SiteQuality
SIO_000300: 1.196e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.355e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10374
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South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 1.705383e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

QD
type: SiteQuality
SIO_000300: 1.487e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e-1

FS
type: SiteQuality
SIO_000300: 1.496e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

VQSLOD
type: SiteQuality
SIO_000300: -2.85e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 18
allele frequency: 2.08768267223382e-3
allele num: 8622
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.707038e6

FS
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e0

QD
type: SiteQuality
SIO_000300: 1.242e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.708424e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.51e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.069e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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Other
type: Population
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allele num: 908
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 2.423e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.709884e6

MQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 124

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

East Asian
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Non-Finnish)
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allele count: 124
allele frequency: 1.859683853744863e-3
allele num: 66678
num of homozygotes: 2

South Asian
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Other
type: Population
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allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
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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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MQRankSum
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QD
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DP
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
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allele num: 8650
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Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16504
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.141e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

Latino
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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: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.212268153715602e-4
allele num: 16498
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East Asian
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

QD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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FS
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.200768491834774e-4
allele num: 66624
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.539e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

DP
type: SiteQuality
SIO_000300: 1.707492e6

MQRankSum
type: SiteQuality
SIO_000300: 5.600000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.057e1

GenotypeQuality
all individuals: 1396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.707124e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.588e0

FS
type: SiteQuality
SIO_000300: 2.363e0

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.046e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.88e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 16486
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African
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allele frequency: 0.0e0
allele num: 10390
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East Asian
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allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

FS
type: SiteQuality
SIO_000300: 5.401e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.705785e6

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.025e0

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509570678099149e-5
allele num: 66244
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.4e-1

DP
type: SiteQuality
SIO_000300: 1.697915e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.007e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.509661835748792e-5
allele num: 66240
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 1.697572e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.948e0

QD
type: SiteQuality
SIO_000300: 1.241e1

VQSLOD
type: SiteQuality
SIO_000300: -5.656e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.520300398967379e-4
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.331e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.124e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

DP
type: SiteQuality
SIO_000300: 1.67004e6

FS
type: SiteQuality
SIO_000300: 1.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.626e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10958
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.596933886937081e-5
allele num: 62620
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
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.519e0

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.262e1

FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -3.075e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.711e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7718
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.59877135726627e-5
allele num: 10418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.655190677966102e-5
allele num: 60416
num of homozygotes: 0

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

African
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allele count: 0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.678e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.390367e6

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.577784790154623e-4
allele num: 6338
num of homozygotes: 0

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

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

African
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allele count: 0
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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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 9630
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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East Asian
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Other
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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FS
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DP
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QD
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 7.13e-1

GenotypeQuality
all individuals: 18055
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.050420168067227e-4
allele num: 9520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.239e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.177e1

FS
type: SiteQuality
SIO_000300: 6.953e0

DP
type: SiteQuality
SIO_000300: 1.266502e6

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 6.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3256
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.701664227614607e-5
allele num: 58766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.389e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 8.708e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

DP
type: SiteQuality
SIO_000300: 1.25402e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
all individuals: 3192
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6300
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.409638554216868e-3
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.212163495898989e-4
allele num: 58766
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.708e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.25402e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

GenotypeQuality
all individuals: 753
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16625
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 17
allele frequency: 1.165021929824561e-3
allele num: 14592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.956192751891676e-5
allele num: 10044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

DP
type: SiteQuality
SIO_000300: 1.243833e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

GenotypeQuality
all individuals: 4434
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837762340574117e-5
allele num: 54414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13534
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

QD
type: SiteQuality
SIO_000300: 7.74e0

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.090242e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

GenotypeQuality
all individuals: 3239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1630
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.837965005146302e-5
allele num: 54408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13548
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 1.089586e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.231000000000001e-1

GenotypeQuality
all individuals: 6778
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12653
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.206155819172812e-4
allele num: 6238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51666
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12878
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 9.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e-1

DP
type: SiteQuality
SIO_000300: 1.067711e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0