12-21643345-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21643345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21643345
    reference: chr 12
allele count: 7
allele frequency: 6.33266388029456e-5
allele num: 110538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.215-33A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.215-33A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.215-33A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.215-33A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.215-33A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.215-33A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.215-33A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.215-33A>G
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10947
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

12-21643349-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21643349
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21643349
    reference: chr 12
allele count: 3
allele frequency: 2.762227460223925e-5
allele num: 108608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.215-37T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.215-37T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.215-37T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.215-37T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.215-37T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.215-37T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.215-37T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.215-37T>C
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14055
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6310
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-21643352-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21643352
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21643352
    reference: chr 12
allele count: 2
allele frequency: 1.845869866174435e-5
allele num: 108350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.215-40G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.215-40G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.215-40G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.215-40G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.215-40G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.215-40G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.215-40G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.215-40G>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13958
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15658
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-21643358-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21643358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21643358
    reference: chr 12
allele count: 8
allele frequency: 7.546173146942857e-5
allele num: 106014
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.215-46A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.215-46A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.215-46A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.215-46A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.215-46A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.215-46A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.215-46A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.215-46A>G
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14881
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14768
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6285
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

12-21643360-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21643360
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21643360
    reference: chr 12
allele count: 9
allele frequency: 8.535983914412534e-5
allele num: 105436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.215-48C>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.215-48C>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.215-48C>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.215-48C>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.215-48C>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.215-48C>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.215-48C>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.215-48C>A
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14712
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11083
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14700
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2003
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7264
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1536
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8998
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

12-21643363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21643363
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21643363
    reference: chr 12
allele count: 2
allele frequency: 1.927748004780815e-5
allele num: 103748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.215-51C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.215-51C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.215-51C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.215-51C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.215-51C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.215-51C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.215-51C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.215-51C>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11375
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7905
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7906
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7219
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

12-21644402-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644401
    reference: chr 12
allele count: 1
allele frequency: 1.252410890965108e-5
allele num: 79846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+50delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+50delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+50delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+50delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+50delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+50delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+50delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+50delT
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18950
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4739
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: TA
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-21644403-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644403
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644403
    reference: chr 12
allele count: 5
allele frequency: 6.26064309325854e-5
allele num: 79864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+50T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+50T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+50T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+50T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+50T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+50T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+50T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+50T>A
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12029
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18935
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

12-21644409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644409
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644409
    reference: chr 12
allele count: 4
allele frequency: 4.95687518588282e-5
allele num: 80696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+44A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+44A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+44A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+44A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+44A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+44A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+44A>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+44A>G
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8248
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9258
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-21644413-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644413
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644413
    reference: chr 12
allele count: 90
allele frequency: 1.094384591064958e-3
allele num: 82238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+40T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+40T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+40T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+40T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+40T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+40T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+40T>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+40T>A
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10073
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14894
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 18354
  bin: 1.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5842
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1937
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 1.75e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

12-21644423-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644423
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644423
    reference: chr 12
allele count: 2
allele frequency: 2.266083527838836e-5
allele num: 88258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+30T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+30T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+30T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+30T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+30T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+30T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+30T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+30T>C
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15999
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-21644428-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644429
    reference: chr 12
allele count: 4552
allele frequency: 1.091135720791984e-1
allele num: 41718
alternate allele: CA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+24dupT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+24dupT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+24dupT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+24dupT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+24dupT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+24dupT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+24dupT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+24dupT
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 1.25e1
  variant carriers: 3811
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 1.75e1
  variant carriers: 1466
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 7.5e0
  variant carriers: 3852
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.5e0
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.25e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 5.75e1
  variant carriers: 418
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 4.75e1
  variant carriers: 560
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 9.75e1
  variant carriers: 221
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 2.25e1
  variant carriers: 966
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 981
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 349
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 1.75e1
  variant carriers: 709
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 880
num of homozygotes: 6
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/12-21644428-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644430
    reference: chr 12
allele count: 666
allele frequency: 1.596433194304617e-2
allele num: 41718
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+23_214+24dupTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+23_214+24dupTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+23_214+24dupTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+23_214+24dupTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+23_214+24dupTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+23_214+24dupTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+23_214+24dupTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+23_214+24dupTT
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 1.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 7.5e0
  variant carriers: 748
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 1.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.5e0
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 87
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 5.25e1
  variant carriers: 102
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 9.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 5.75e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 117
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-21644428-C-CAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644431
    reference: chr 12
allele count: 120
allele frequency: 2.876456205954264e-3
allele num: 41718
alternate allele: CAAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+22_214+24dupTTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+22_214+24dupTTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+22_214+24dupTTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+22_214+24dupTTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+22_214+24dupTTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+22_214+24dupTTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+22_214+24dupTTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+22_214+24dupTTT
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 1.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 7.5e0
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 4.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 25613
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 16
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/12-21644428-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644427
    reference: chr 12
allele count: 14607
allele frequency: 3.501366316697828e-1
allele num: 41718
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+24delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+24delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+24delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+24delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+24delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+24delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+24delT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+24delT
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 237
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 7.5e0
  variant carriers: 3431
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 1.25e1
  variant carriers: 8159
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.5e0
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 1.75e1
  variant carriers: 5576
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 870
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.25e1
  variant carriers: 2038
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.5e0
  variant carriers: 853
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 1424
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 5.75e1
  variant carriers: 1188
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 920
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 1673
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 412
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 1211
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 934
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: CA
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-21644428-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644426
    reference: chr 12
allele count: 2056
allele frequency: 4.928328299534973e-2
allele num: 41718
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+23_214+24delTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+23_214+24delTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+23_214+24delTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+23_214+24delTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+23_214+24delTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+23_214+24delTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+23_214+24delTT
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+23_214+24delTT
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.25e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 1.75e1
  variant carriers: 969
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 7.5e0
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 1.25e1
  variant carriers: 1093
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 5.25e1
  variant carriers: 144
genotype quality: GenotypeQuality
  all individuals: 25613
  bin: 2.5e0
  variant carriers: 219
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 155
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 197
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.5e0
  variant carriers: 195
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 141
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 132
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: CAA
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-21644428-CAAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644428
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644425
    reference: chr 12
allele count: 201
allele frequency: 4.818064144973393e-3
allele num: 41718
alternate allele: C
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8255
  bin: 2.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 17518
  bin: 1.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10199
  bin: 7.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 14397
  bin: 1.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 4.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2181
  bin: 7.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 1.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 25613
  bin: 2.5e0
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 8.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2323
  bin: 9.75e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 4.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 7.25e1
  variant carriers: 14
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3014
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 3.144654088050315e-3
  allele num: 318
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 17
  allele frequency: 3.556485355648536e-3
  allele num: 4780
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 17
  allele frequency: 4.118217054263566e-3
  allele num: 4128
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: CAAA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum

http://identifiers.org/exac.variant/12-21644435-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644435
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644435
    reference: chr 12
allele count: 1
allele frequency: 9.235486433070429e-6
allele num: 108278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+18T>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+18T>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+18T>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+18T>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+18T>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+18T>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+18T>G
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+18T>G
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7743
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8940
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

12-21644439-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644439
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644439
    reference: chr 12
allele count: 1
allele frequency: 8.837201081673412e-6
allele num: 113158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+14T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+14T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+14T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+14T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+14T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+14T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+14T>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+14T>C
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16691
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-21644447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644447
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644447
    reference: chr 12
allele count: 5
allele frequency: 6.13195977434388e-5
allele num: 81540
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+6C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+6C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+6C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+6C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+6C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+6C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+6C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+6C>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 10223
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13658
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12966
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11883
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2142
  bin: 3.75e1
  variant carriers: 0
hgvs: c.214+6C>T
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

12-21644448-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644448
    reference: chr 12
allele count: 2
allele frequency: 1.829156758734224e-5
allele num: 109340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+5A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+5A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+5A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+5A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+5A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+5A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+5A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+5A>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4033
  bin: 6.75e1
  variant carriers: 0
hgvs: c.214+5A>T
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-21644449-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644449
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644449
    reference: chr 12
allele count: 2
allele frequency: 1.751037489712655e-5
allele num: 114218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214+4A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214+4A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214+4A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214+4A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214+4A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214+4A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214+4A>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214+4A>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2592
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1544
  bin: 5.25e1
  variant carriers: 0
hgvs: c.214+4A>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-21644453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644453
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644453
    reference: chr 12
allele count: 1
allele frequency: 8.60244653579478e-6
allele num: 116246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.214G>A
  hgvsp: ENSP00000395449.2:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.214G>A
  hgvsp: ENSP00000446036.1:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.214G>A
  hgvsp: ENSP00000379400.3:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.214G>A
  hgvsp: ENSP00000445555.1:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.214G>A
  hgvsp: ENSP00000440700.1:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.214G>A
  hgvsp: ENSP00000318727.6:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.214G>A
  hgvsp: ENSP00000416739.2:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.214G>A
  hgvsp: ENSP00000439069.1:p.Asp72Asn
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2683
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18990
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32663
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp72Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

12-21644456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644456
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644456
    reference: chr 12
allele count: 45
allele frequency: 4.292582417582418e-4
allele num: 104832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.211G>A
  hgvsp: ENSP00000379400.3:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.211G>A
  hgvsp: ENSP00000446036.1:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.211G>A
  hgvsp: ENSP00000440700.1:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.211G>A
  hgvsp: ENSP00000395449.2:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.211G>A
  hgvsp: ENSP00000439069.1:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.211G>A
  hgvsp: ENSP00000416739.2:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.211G>A
  hgvsp: ENSP00000318727.6:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.211G>A
  hgvsp: ENSP00000445555.1:p.Glu71Lys
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16968
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 15554
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 3.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2137
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 5.25e1
  variant carriers: 3
hgvs: p.Glu71Lys
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

12-21644458-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644458
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644458
    reference: chr 12
allele count: 1
allele frequency: 8.477881207928515e-6
allele num: 117954
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.209A>C
  hgvsp: ENSP00000318727.6:p.Lys70Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.209A>C
  hgvsp: ENSP00000395449.2:p.Lys70Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.209A>C
  hgvsp: ENSP00000439069.1:p.Lys70Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.209A>C
  hgvsp: ENSP00000379400.3:p.Lys70Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.209A>C
  hgvsp: ENSP00000416739.2:p.Lys70Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.209A>C
  hgvsp: ENSP00000446036.1:p.Lys70Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.209A>C
  hgvsp: ENSP00000445555.1:p.Lys70Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.209A>C
  hgvsp: ENSP00000440700.1:p.Lys70Thr
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34914
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys70Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

12-21644460-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644460
    reference: chr 12
allele count: 6
allele frequency: 5.144032921810699e-5
allele num: 116640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.207T>A
  hgvsp: ENSP00000395449.2:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.207T>A
  hgvsp: ENSP00000416739.2:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.207T>A
  hgvsp: ENSP00000445555.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.207T>A
  hgvsp: ENSP00000446036.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.207T>A
  hgvsp: ENSP00000440700.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.207T>A
  hgvsp: ENSP00000318727.6:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.207T>A
  hgvsp: ENSP00000439069.1:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.207T>A
  hgvsp: ENSP00000379400.3:p.Asn69Lys
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3406
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21395
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18200
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6761
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Asn69Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

12-21644468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644468
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644468
    reference: chr 12
allele count: 11
allele frequency: 9.236711730623897e-5
allele num: 119090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.199G>A
  hgvsp: ENSP00000440700.1:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.199G>A
  hgvsp: ENSP00000379400.3:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.199G>A
  hgvsp: ENSP00000395449.2:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.199G>A
  hgvsp: ENSP00000416739.2:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.199G>A
  hgvsp: ENSP00000445555.1:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.199G>A
  hgvsp: ENSP00000446036.1:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.199G>A
  hgvsp: ENSP00000439069.1:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.199G>A
  hgvsp: ENSP00000318727.6:p.Ala67Thr
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19239
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22607
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala67Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

12-21644469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644469
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644469
    reference: chr 12
allele count: 1
allele frequency: 8.38447865311735e-6
allele num: 119268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.198C>T
  hgvsp: ENST00000536240.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.198C>T
  hgvsp: ENST00000539672.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.198C>T
  hgvsp: ENST00000421138.2:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.198C>T
  hgvsp: ENST00000542432.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.198C>T
  hgvsp: ENST00000314748.6:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.198C>T
  hgvsp: ENST00000536964.1:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.198C>T
  hgvsp: ENST00000444129.2:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.198C>T
  hgvsp: ENST00000396093.3:c.198C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7735
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala66Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

12-21644475-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644475
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644475
    reference: chr 12
allele count: 3327
allele frequency: 2.946490249216218e-2
allele num: 112914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.192A>C
  hgvsp: ENST00000314748.6:c.192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.192A>C
  hgvsp: ENST00000539672.1:c.192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.192A>C
  hgvsp: ENST00000542432.1:c.192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.192A>C
  hgvsp: ENST00000421138.2:c.192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.192A>C
  hgvsp: ENST00000444129.2:c.192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.192A>C
  hgvsp: ENST00000536240.1:c.192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.192A>C
  hgvsp: ENST00000396093.3:c.192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.192A>C
  hgvsp: ENST00000536964.1:c.192A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.75e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 6.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 17093
  bin: 2.25e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 3.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 9.75e1
  variant carriers: 423
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 3.75e1
  variant carriers: 240
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 4.75e1
  variant carriers: 282
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 4.25e1
  variant carriers: 291
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 21266
  bin: 2.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 7.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 5.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.25e1
  variant carriers: 239
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.25e1
  variant carriers: 115
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.5e0
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.25e1
  variant carriers: 68
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 40
hgvs: p.Ser64Ser
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

12-21644477-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644477
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644477
    reference: chr 12
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.190T>C
  hgvsp: ENSP00000446036.1:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.190T>C
  hgvsp: ENSP00000395449.2:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.190T>C
  hgvsp: ENSP00000379400.3:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.190T>C
  hgvsp: ENSP00000439069.1:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.190T>C
  hgvsp: ENSP00000440700.1:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.190T>C
  hgvsp: ENSP00000318727.6:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.190T>C
  hgvsp: ENSP00000416739.2:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.190T>C
  hgvsp: ENSP00000445555.1:p.Ser64Pro
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24747
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser64Pro
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-21644485-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644485
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644485
    reference: chr 12
allele count: 1
allele frequency: 8.312413758707254e-6
allele num: 120302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.182A>G
  hgvsp: ENSP00000318727.6:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.182A>G
  hgvsp: ENSP00000379400.3:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.182A>G
  hgvsp: ENSP00000416739.2:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.182A>G
  hgvsp: ENSP00000440700.1:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.182A>G
  hgvsp: ENSP00000395449.2:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.182A>G
  hgvsp: ENSP00000445555.1:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.182A>G
  hgvsp: ENSP00000439069.1:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.182A>G
  hgvsp: ENSP00000446036.1:p.Tyr61Cys
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr61Cys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

12-21644494-C-CTTGCCCCGGCATCAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644509
    reference: chr 12
allele count: 1
allele frequency: 8.296001327360212e-6
allele num: 120540
alternate allele: CTTGCCCCGGCATCAG
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25178
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7822
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala57_Ser58insThrAspAlaGlyAla
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-21644498-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644498
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644498
    reference: chr 12
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.169G>C
  hgvsp: ENSP00000395449.2:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.169G>C
  hgvsp: ENSP00000439069.1:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.169G>C
  hgvsp: ENSP00000318727.6:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.169G>C
  hgvsp: ENSP00000445555.1:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.169G>C
  hgvsp: ENSP00000440700.1:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.169G>C
  hgvsp: ENSP00000416739.2:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.169G>C
  hgvsp: ENSP00000446036.1:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.169G>C
  hgvsp: ENSP00000379400.3:p.Ala57Pro
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala57Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-21644501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644501
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644501
    reference: chr 12
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.166G>A
  hgvsp: ENSP00000318727.6:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.166G>A
  hgvsp: ENSP00000440700.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.166G>A
  hgvsp: ENSP00000446036.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.166G>A
  hgvsp: ENSP00000395449.2:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.166G>A
  hgvsp: ENSP00000439069.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.166G>A
  hgvsp: ENSP00000445555.1:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.166G>A
  hgvsp: ENSP00000379400.3:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.166G>A
  hgvsp: ENSP00000416739.2:p.Gly56Arg
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly56Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-21644502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644502
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644502
    reference: chr 12
allele count: 1
allele frequency: 8.288162845823595e-6
allele num: 120654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.165C>T
  hgvsp: ENST00000396093.3:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.165C>T
  hgvsp: ENST00000542432.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.165C>T
  hgvsp: ENST00000421138.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.165C>T
  hgvsp: ENST00000444129.2:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.165C>T
  hgvsp: ENST00000536964.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.165C>T
  hgvsp: ENST00000539672.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.165C>T
  hgvsp: ENST00000536240.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.165C>T
  hgvsp: ENST00000314748.6:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala55Ala
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-21644507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644507
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644507
    reference: chr 12
allele count: 4
allele frequency: 3.31356241094801e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.160G>A
  hgvsp: ENSP00000395449.2:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.160G>A
  hgvsp: ENSP00000445555.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.160G>A
  hgvsp: ENSP00000439069.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.160G>A
  hgvsp: ENSP00000318727.6:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.160G>A
  hgvsp: ENSP00000440700.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.160G>A
  hgvsp: ENSP00000416739.2:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.160G>A
  hgvsp: ENSP00000446036.1:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.160G>A
  hgvsp: ENSP00000379400.3:p.Asp54Asn
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41186
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp54Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/12-21644511-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644511
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644511
    reference: chr 12
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.156T>G
  hgvsp: ENSP00000379400.3:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.156T>G
  hgvsp: ENSP00000318727.6:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.156T>G
  hgvsp: ENSP00000445555.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.156T>G
  hgvsp: ENSP00000446036.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.156T>G
  hgvsp: ENSP00000416739.2:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.156T>G
  hgvsp: ENSP00000440700.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.156T>G
  hgvsp: ENSP00000439069.1:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.156T>G
  hgvsp: ENSP00000395449.2:p.Asp52Glu
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp52Glu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-21644515-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644515
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644515
    reference: chr 12
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.152A>G
  hgvsp: ENSP00000379400.3:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.152A>G
  hgvsp: ENSP00000416739.2:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.152A>G
  hgvsp: ENSP00000395449.2:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.152A>G
  hgvsp: ENSP00000445555.1:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.152A>G
  hgvsp: ENSP00000439069.1:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.152A>G
  hgvsp: ENSP00000318727.6:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.152A>G
  hgvsp: ENSP00000440700.1:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.152A>G
  hgvsp: ENSP00000446036.1:p.Glu51Gly
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu51Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-21644516-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644516
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644516
    reference: chr 12
allele count: 2
allele frequency: 1.655519502019734e-5
allele num: 120808
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.151G>A
  hgvsp: ENSP00000416739.2:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.151G>A
  hgvsp: ENSP00000446036.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.151G>A
  hgvsp: ENSP00000445555.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.151G>A
  hgvsp: ENSP00000440700.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.151G>A
  hgvsp: ENSP00000439069.1:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.151G>A
  hgvsp: ENSP00000379400.3:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.151G>A
  hgvsp: ENSP00000318727.6:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.151G>A
  hgvsp: ENSP00000395449.2:p.Glu51Lys
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu51Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-21644522-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644522
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644522
    reference: chr 12
allele count: 1
allele frequency: 8.278556881964336e-6
allele num: 120794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.145T>G
  hgvsp: ENSP00000395449.2:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.145T>G
  hgvsp: ENSP00000440700.1:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.145T>G
  hgvsp: ENSP00000439069.1:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.145T>G
  hgvsp: ENSP00000446036.1:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.145T>G
  hgvsp: ENSP00000445555.1:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.145T>G
  hgvsp: ENSP00000416739.2:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.145T>G
  hgvsp: ENSP00000318727.6:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.145T>G
  hgvsp: ENSP00000379400.3:p.Cys49Gly
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys49Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-21644525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644525
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644525
    reference: chr 12
allele count: 1
allele frequency: 8.278693953241936e-6
allele num: 120792
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.142C>T
  hgvsp: ENSP00000416739.2:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.142C>T
  hgvsp: ENSP00000379400.3:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.142C>T
  hgvsp: ENSP00000445555.1:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.142C>T
  hgvsp: ENSP00000440700.1:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.142C>T
  hgvsp: ENSP00000318727.6:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.142C>T
  hgvsp: ENSP00000395449.2:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.142C>T
  hgvsp: ENSP00000446036.1:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.142C>T
  hgvsp: ENSP00000439069.1:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8539
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln48Ter
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-21644531-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644531
    reference: chr 12
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.136A>G
  hgvsp: ENSP00000445555.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.136A>G
  hgvsp: ENSP00000446036.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.136A>G
  hgvsp: ENSP00000395449.2:p.Ile46Val
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.136A>G
  hgvsp: ENSP00000440700.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.136A>G
  hgvsp: ENSP00000379400.3:p.Ile46Val
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.136A>G
  hgvsp: ENSP00000416739.2:p.Ile46Val
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.136A>G
  hgvsp: ENSP00000318727.6:p.Ile46Val
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.136A>G
  hgvsp: ENSP00000439069.1:p.Ile46Val
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile46Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

12-21644531-TTTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644531
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644527
    reference: chr 12
allele count: 3
allele frequency: 2.484924789609701e-5
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.132_135delGAAA
  hgvsp: ENSP00000439069.1:p.Lys45Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.132_135delGAAA
  hgvsp: ENSP00000446036.1:p.Lys45Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.132_135delGAAA
  hgvsp: ENSP00000395449.2:p.Lys45Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.132_135delGAAA
  hgvsp: ENSP00000379400.3:p.Lys45Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.132_135delGAAA
  hgvsp: ENSP00000416739.2:p.Lys45Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.132_135delGAAA
  hgvsp: ENSP00000440700.1:p.Lys45Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.132_135delGAAA
  hgvsp: ENSP00000318727.6:p.Lys45Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.132_135delGAAA
  hgvsp: ENSP00000445555.1:p.Lys45Ter
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys45Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: TTTTC
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-21644532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644532
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644532
    reference: chr 12
allele count: 3
allele frequency: 2.485377694563651e-5
allele num: 120706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.135A>G
  hgvsp: ENST00000421138.2:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.135A>G
  hgvsp: ENST00000542432.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.135A>G
  hgvsp: ENST00000314748.6:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.135A>G
  hgvsp: ENST00000536964.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.135A>G
  hgvsp: ENST00000539672.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.135A>G
  hgvsp: ENST00000536240.1:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.135A>G
  hgvsp: ENST00000444129.2:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.135A>G
  hgvsp: ENST00000396093.3:c.135A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18747
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Lys45Lys
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

12-21644534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644534
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644534
    reference: chr 12
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.133A>G
  hgvsp: ENSP00000395449.2:p.Lys45Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.133A>G
  hgvsp: ENSP00000416739.2:p.Lys45Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.133A>G
  hgvsp: ENSP00000439069.1:p.Lys45Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.133A>G
  hgvsp: ENSP00000440700.1:p.Lys45Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.133A>G
  hgvsp: ENSP00000445555.1:p.Lys45Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.133A>G
  hgvsp: ENSP00000446036.1:p.Lys45Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.133A>G
  hgvsp: ENSP00000318727.6:p.Lys45Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.133A>G
  hgvsp: ENSP00000379400.3:p.Lys45Glu
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys45Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-21644546-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644546
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644547
    reference: chr 12
allele count: 43
allele frequency: 3.685545803620406e-4
allele num: 116672
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.120dupA
  hgvsp: ENSP00000395449.2:p.Val41SerfsTer14
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.120dupA
  hgvsp: ENSP00000318727.6:p.Val41SerfsTer14
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.120dupA
  hgvsp: ENSP00000379400.3:p.Val41SerfsTer14
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.120dupA
  hgvsp: ENSP00000416739.2:p.Val41SerfsTer14
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.120dupA
  hgvsp: ENSP00000446036.1:p.Val41SerfsTer14
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.120dupA
  hgvsp: ENSP00000439069.1:p.Val41SerfsTer14
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.120dupA
  hgvsp: ENSP00000445555.1:p.Val41SerfsTer14
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.120dupA
  hgvsp: ENSP00000440700.1:p.Val41SerfsTer14
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16815
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 23735
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 1.25e1
  variant carriers: 10
hgvs: p.Val41SerfsTer14
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

12-21644546-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644546
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644545
    reference: chr 12
allele count: 17
allele frequency: 1.457076247942951e-4
allele num: 116672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.120delA
  hgvsp: ENSP00000440700.1:p.Val41SerfsTer2
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.120delA
  hgvsp: ENSP00000379400.3:p.Val41SerfsTer2
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.120delA
  hgvsp: ENSP00000318727.6:p.Val41SerfsTer2
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.120delA
  hgvsp: ENSP00000445555.1:p.Val41SerfsTer2
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.120delA
  hgvsp: ENSP00000395449.2:p.Val41SerfsTer2
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.120delA
  hgvsp: ENSP00000416739.2:p.Val41SerfsTer2
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.120delA
  hgvsp: ENSP00000439069.1:p.Val41SerfsTer2
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.120delA
  hgvsp: ENSP00000446036.1:p.Val41SerfsTer2
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 16815
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23735
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 5.25e1
  variant carriers: 2
hgvs: p.Val41SerfsTer2
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: CT
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-21644549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644549
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644549
    reference: chr 12
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.118A>G
  hgvsp: ENSP00000440700.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.118A>G
  hgvsp: ENSP00000445555.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.118A>G
  hgvsp: ENSP00000379400.3:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.118A>G
  hgvsp: ENSP00000439069.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.118A>G
  hgvsp: ENSP00000446036.1:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.118A>G
  hgvsp: ENSP00000318727.6:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.118A>G
  hgvsp: ENSP00000416739.2:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.118A>G
  hgvsp: ENSP00000395449.2:p.Lys40Glu
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18641
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys40Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

12-21644551-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644551
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644551
    reference: chr 12
allele count: 1
allele frequency: 8.315316813570598e-6
allele num: 120260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.116A>C
  hgvsp: ENSP00000318727.6:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.116A>C
  hgvsp: ENSP00000445555.1:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.116A>C
  hgvsp: ENSP00000395449.2:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.116A>C
  hgvsp: ENSP00000439069.1:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.116A>C
  hgvsp: ENSP00000446036.1:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.116A>C
  hgvsp: ENSP00000416739.2:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.116A>C
  hgvsp: ENSP00000440700.1:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.116A>C
  hgvsp: ENSP00000379400.3:p.Lys39Thr
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7560
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys39Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

12-21644552-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644552
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644552
    reference: chr 12
allele count: 1
allele frequency: 8.315870006320061e-6
allele num: 120252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.115A>C
  hgvsp: ENSP00000445555.1:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.115A>C
  hgvsp: ENSP00000446036.1:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.115A>C
  hgvsp: ENSP00000318727.6:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.115A>C
  hgvsp: ENSP00000416739.2:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.115A>C
  hgvsp: ENSP00000440700.1:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.115A>C
  hgvsp: ENSP00000395449.2:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.115A>C
  hgvsp: ENSP00000439069.1:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.115A>C
  hgvsp: ENSP00000379400.3:p.Lys39Gln
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys39Gln
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-21644565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644565
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644565
    reference: chr 12
allele count: 1
allele frequency: 8.370302167908262e-6
allele num: 119470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.102G>A
  hgvsp: ENST00000536240.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.102G>A
  hgvsp: ENST00000542432.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.102G>A
  hgvsp: ENST00000536964.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.102G>A
  hgvsp: ENST00000396093.3:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.102G>A
  hgvsp: ENST00000444129.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.102G>A
  hgvsp: ENST00000421138.2:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.102G>A
  hgvsp: ENST00000539672.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.102G>A
  hgvsp: ENST00000314748.6:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25381
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6825
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu34Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

12-21644571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644571
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644571
    reference: chr 12
allele count: 1
allele frequency: 8.388135820695209e-6
allele num: 119216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.96A>G
  hgvsp: ENST00000421138.2:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.96A>G
  hgvsp: ENST00000536240.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.96A>G
  hgvsp: ENST00000444129.2:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.96A>G
  hgvsp: ENST00000536964.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.96A>G
  hgvsp: ENST00000396093.3:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.96A>G
  hgvsp: ENST00000314748.6:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.96A>G
  hgvsp: ENST00000539672.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.96A>G
  hgvsp: ENST00000542432.1:c.96A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6948
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln32Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-21644579-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644579
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644579
    reference: chr 12
allele count: 1
allele frequency: 8.430992327796981e-6
allele num: 118610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.88G>T
  hgvsp: ENSP00000439069.1:p.Glu30Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.88G>T
  hgvsp: ENSP00000379400.3:p.Glu30Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.88G>T
  hgvsp: ENSP00000395449.2:p.Glu30Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.88G>T
  hgvsp: ENSP00000318727.6:p.Glu30Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.88G>T
  hgvsp: ENSP00000440700.1:p.Glu30Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.88G>T
  hgvsp: ENSP00000445555.1:p.Glu30Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.88G>T
  hgvsp: ENSP00000416739.2:p.Glu30Ter
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.88G>T
  hgvsp: ENSP00000446036.1:p.Glu30Ter
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18966
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6593
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu30Ter
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

12-21644580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644580
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644580
    reference: chr 12
allele count: 48
allele frequency: 4.050427826439168e-4
allele num: 118506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.87G>A
  hgvsp: ENST00000421138.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.87G>A
  hgvsp: ENST00000536240.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.87G>A
  hgvsp: ENST00000536964.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.87G>A
  hgvsp: ENST00000396093.3:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.87G>A
  hgvsp: ENST00000539672.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.87G>A
  hgvsp: ENST00000314748.6:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.87G>A
  hgvsp: ENST00000542432.1:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.87G>A
  hgvsp: ENST00000444129.2:c.87G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 23580
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19005
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 5.25e1
  variant carriers: 1
hgvs: p.Thr29Thr
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

12-21644581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644581
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644581
    reference: chr 12
allele count: 14
allele frequency: 1.18397239652927e-4
allele num: 118246
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.86C>T
  hgvsp: ENSP00000395449.2:p.Thr29Met
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.86C>T
  hgvsp: ENSP00000440700.1:p.Thr29Met
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.86C>T
  hgvsp: ENSP00000446036.1:p.Thr29Met
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.86C>T
  hgvsp: ENSP00000379400.3:p.Thr29Met
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.86C>T
  hgvsp: ENSP00000318727.6:p.Thr29Met
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.86C>T
  hgvsp: ENSP00000445555.1:p.Thr29Met
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.86C>T
  hgvsp: ENSP00000416739.2:p.Thr29Met
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.86C>T
  hgvsp: ENSP00000439069.1:p.Thr29Met
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1098
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19153
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr29Met
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-21644583-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644583
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644583
    reference: chr 12
allele count: 2
allele frequency: 1.69098872110523e-5
allele num: 118274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.84T>G
  hgvsp: ENST00000539672.1:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.84T>G
  hgvsp: ENST00000542432.1:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.84T>G
  hgvsp: ENST00000421138.2:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.84T>G
  hgvsp: ENST00000536240.1:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.84T>G
  hgvsp: ENST00000396093.3:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.84T>G
  hgvsp: ENST00000536964.1:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.84T>G
  hgvsp: ENST00000314748.6:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.84T>G
  hgvsp: ENST00000444129.2:c.84T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu28Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-21644589-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644589
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644589
    reference: chr 12
allele count: 131
allele frequency: 1.112545436015898e-3
allele num: 117748
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.78A>G
  hgvsp: ENST00000444129.2:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.78A>G
  hgvsp: ENST00000536964.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.78A>G
  hgvsp: ENST00000396093.3:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.78A>G
  hgvsp: ENST00000539672.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.78A>G
  hgvsp: ENST00000421138.2:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.78A>G
  hgvsp: ENST00000536240.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.78A>G
  hgvsp: ENST00000314748.6:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.78A>G
  hgvsp: ENST00000542432.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22169
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 19505
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 9.75e1
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln26Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

12-21644594-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644594
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644594
    reference: chr 12
allele count: 6
allele frequency: 5.101346755543464e-5
allele num: 117616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.73A>T
  hgvsp: ENSP00000440700.1:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.73A>T
  hgvsp: ENSP00000439069.1:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.73A>T
  hgvsp: ENSP00000395449.2:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.73A>T
  hgvsp: ENSP00000379400.3:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.73A>T
  hgvsp: ENSP00000446036.1:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.73A>T
  hgvsp: ENSP00000416739.2:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.73A>T
  hgvsp: ENSP00000318727.6:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.73A>T
  hgvsp: ENSP00000445555.1:p.Ile25Phe
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21750
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile25Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-21644595-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644595
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644595
    reference: chr 12
allele count: 1
allele frequency: 8.502244592572439e-6
allele num: 117616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.72A>G
  hgvsp: ENST00000421138.2:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.72A>G
  hgvsp: ENST00000539672.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.72A>G
  hgvsp: ENST00000444129.2:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.72A>G
  hgvsp: ENST00000314748.6:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.72A>G
  hgvsp: ENST00000536240.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.72A>G
  hgvsp: ENST00000542432.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.72A>G
  hgvsp: ENST00000396093.3:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.72A>G
  hgvsp: ENST00000536964.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln24Gln
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-21644615-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644615
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644615
    reference: chr 12
allele count: 15
allele frequency: 1.296389124159508e-4
allele num: 115706
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.52C>T
  hgvsp: ENST00000444129.2:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.52C>T
  hgvsp: ENST00000539672.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.52C>T
  hgvsp: ENST00000536240.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.52C>T
  hgvsp: ENST00000421138.2:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.52C>T
  hgvsp: ENST00000314748.6:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.52C>T
  hgvsp: ENST00000536964.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.52C>T
  hgvsp: ENST00000396093.3:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.52C>T
  hgvsp: ENST00000542432.1:c.52C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19410
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5698
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5696
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35494
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu18Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-21644620-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644620
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644620
    reference: chr 12
allele count: 1
allele frequency: 8.685984295740394e-6
allele num: 115128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.47G>C
  hgvsp: ENSP00000445555.1:p.Ser16Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.47G>C
  hgvsp: ENSP00000440700.1:p.Ser16Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.47G>C
  hgvsp: ENSP00000379400.3:p.Ser16Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.47G>C
  hgvsp: ENSP00000446036.1:p.Ser16Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.47G>C
  hgvsp: ENSP00000395449.2:p.Ser16Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.47G>C
  hgvsp: ENSP00000416739.2:p.Ser16Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.47G>C
  hgvsp: ENSP00000439069.1:p.Ser16Thr
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.47G>C
  hgvsp: ENSP00000318727.6:p.Ser16Thr
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1652
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34459
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser16Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ

12-21644636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644636
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644636
    reference: chr 12
allele count: 2
allele frequency: 1.768815777836738e-5
allele num: 113070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.31C>T
  hgvsp: ENST00000314748.6:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.31C>T
  hgvsp: ENST00000421138.2:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.31C>T
  hgvsp: ENST00000396093.3:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.31C>T
  hgvsp: ENST00000539672.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.31C>T
  hgvsp: ENST00000444129.2:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.31C>T
  hgvsp: ENST00000542432.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.31C>T
  hgvsp: ENST00000536964.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.31C>T
  hgvsp: ENST00000536240.1:c.31C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10055
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu11Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-21644639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644639
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644639
    reference: chr 12
allele count: 1
allele frequency: 8.868393047179851e-6
allele num: 112760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.28G>A
  hgvsp: ENSP00000318727.6:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.28G>A
  hgvsp: ENSP00000395449.2:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.28G>A
  hgvsp: ENSP00000445555.1:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.28G>A
  hgvsp: ENSP00000379400.3:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.28G>A
  hgvsp: ENSP00000416739.2:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.28G>A
  hgvsp: ENSP00000440700.1:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.28G>A
  hgvsp: ENSP00000446036.1:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.28G>A
  hgvsp: ENSP00000439069.1:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu10Lys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-21644642-CAGTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644642
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644638
    reference: chr 12
allele count: 1
allele frequency: 8.907098957869422e-6
allele num: 112270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.21_24delAACT
  hgvsp: ENSP00000439069.1:p.Thr8ArgfsTer6
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.21_24delAACT
  hgvsp: ENSP00000416739.2:p.Thr8ArgfsTer6
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.21_24delAACT
  hgvsp: ENSP00000440700.1:p.Thr8ArgfsTer6
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.21_24delAACT
  hgvsp: ENSP00000379400.3:p.Thr8ArgfsTer6
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.21_24delAACT
  hgvsp: ENSP00000318727.6:p.Thr8ArgfsTer6
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.21_24delAACT
  hgvsp: ENSP00000446036.1:p.Thr8ArgfsTer6
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.21_24delAACT
  hgvsp: ENSP00000445555.1:p.Thr8ArgfsTer6
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.21_24delAACT
  hgvsp: ENSP00000395449.2:p.Thr8ArgfsTer6
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14701
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2785
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr8ArgfsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: CAGTT
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

12-21644657-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644657
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644657
    reference: chr 12
allele count: 1
allele frequency: 9.188811702870585e-6
allele num: 108828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.17-7C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.17-7C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.17-7C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.17-7C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.17-7C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.17-7C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.17-7C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.17-7C>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4080
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15674
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11900
  bin: 2.25e1
  variant carriers: 0
hgvs: c.17-7C>T
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

12-21644665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644665
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644665
    reference: chr 12
allele count: 3
allele frequency: 2.828534253549811e-5
allele num: 106062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.17-15C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.17-15C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.17-15C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.17-15C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.17-15C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.17-15C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.17-15C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.17-15C>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6439
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12311
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

12-21644666-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644666
    reference: chr 12
allele count: 4386
allele frequency: 4.158370783321008e-2
allele num: 105474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.17-16G>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.17-16G>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.17-16G>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.17-16G>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.17-16G>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.17-16G>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.17-16G>C
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.17-16G>C
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 3.25e1
  variant carriers: 263
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 7.5e0
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 165
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 1.75e1
  variant carriers: 1133
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 14299
  bin: 1.25e1
  variant carriers: 950
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 2.25e1
  variant carriers: 767
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 2.75e1
  variant carriers: 462
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 4.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 4.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 9543
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 5.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 6175
  bin: 9.75e1
  variant carriers: 4126
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 11
num of homozygotes: 115
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

12-21644666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644666
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644666
    reference: chr 12
allele count: 5
allele frequency: 4.740504768947797e-5
allele num: 105474
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.17-16G>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.17-16G>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.17-16G>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.17-16G>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.17-16G>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.17-16G>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.17-16G>A
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.17-16G>A
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14299
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8101
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11394
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-21644667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644667
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644667
    reference: chr 12
allele count: 47928
allele frequency: 4.69201550691154e-1
allele num: 102148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.17-17C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.17-17C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.17-17C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.17-17C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.17-17C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.17-17C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.17-17C>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.17-17C>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 1.75e1
  variant carriers: 10374
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 3221
  bin: 3.25e1
  variant carriers: 2244
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.5e0
  variant carriers: 99
genotype depth: GenotypeDepth
  all individuals: 9368
  bin: 2.25e1
  variant carriers: 7193
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 1.25e1
  variant carriers: 8657
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 2.75e1
  variant carriers: 4050
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 436
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 1279
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 7.5e0
  variant carriers: 2606
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.25e1
  variant carriers: 191
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 4.25e1
  variant carriers: 852
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.25e1
  variant carriers: 309
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 9.75e1
  variant carriers: 494
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 600
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 5.75e1
  variant carriers: 366
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 7.5e0
  variant carriers: 205
genotype quality: GenotypeQuality
  all individuals: 9802
  bin: 2.25e1
  variant carriers: 574
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.75e1
  variant carriers: 456
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 4.75e1
  variant carriers: 1299
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 1.25e1
  variant carriers: 200
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 469
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 1.75e1
  variant carriers: 344
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 9.25e1
  variant carriers: 630
num of homozygotes: 10633
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/12-21644672-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644672
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644672
    reference: chr 12
allele count: 1
allele frequency: 1.228169290855052e-5
allele num: 81422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.17-22G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.17-22G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.17-22G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.17-22G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.17-22G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.17-22G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.17-22G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.17-22G>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-21644695-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 21644695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 21644695
    reference: chr 12
allele count: 1
allele frequency: 1.761804087385483e-5
allele num: 56760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000440700
  ensembl transcript: ENST00000539672
  gene symbol: RECQL
  hgvsc: ENST00000539672.1:c.17-45G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000439069
  ensembl transcript: ENST00000536240
  gene symbol: RECQL
  hgvsc: ENST00000536240.1:c.17-45G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000445555
  ensembl transcript: ENST00000542432
  gene symbol: RECQL
  hgvsc: ENST00000542432.1:c.17-45G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000416739
  ensembl transcript: ENST00000444129
  gene symbol: RECQL
  hgvsc: ENST00000444129.2:c.17-45G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000395449
  ensembl transcript: ENST00000421138
  gene symbol: RECQL
  hgvsc: ENST00000421138.2:c.17-45G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000318727
  ensembl transcript: ENST00000314748
  gene symbol: RECQL
  hgvsc: ENST00000314748.6:c.17-45G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000446036
  ensembl transcript: ENST00000536964
  gene symbol: RECQL
  hgvsc: ENST00000536964.1:c.17-45G>T
  variant of: http://identifiers.org/hgnc/9948
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004700
  ensembl protein: ENSP00000379400
  ensembl transcript: ENST00000396093
  gene symbol: RECQL
  hgvsc: ENST00000396093.3:c.17-45G>T
  variant of: http://identifiers.org/hgnc/9948
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 1049
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17472
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4662
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11185
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2728
bin: 9.75e1
variant carriers: 7

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.953550099535501e-5
allele num: 60280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.081081081081081e-4
allele num: 9250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.324e0

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 1.254566e6

GenotypeQuality
all individuals: 4371
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 912
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2723
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10489
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3119
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.009646302250804e-4
allele num: 14928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.901e0

QD
type: SiteQuality
SIO_000300: 1.6e1

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.94e-1

DP
type: SiteQuality
SIO_000300: 1.207501e6

VQSLOD
type: SiteQuality
SIO_000300: 2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.185e0

GenotypeQuality
all individuals: 3053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7653
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2722
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2344
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6250
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.387992952974658e-5
allele num: 59032
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

FS
type: SiteQuality
SIO_000300: 3.259e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.999e0

DP
type: SiteQuality
SIO_000300: 1.205036e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.1e1

GenotypeQuality
all individuals: 7149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1238
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.870019236053861e-5
allele num: 14556
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.222716159146477e-4
allele num: 8998
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.313496280552603e-4
allele num: 7528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.738042269187987e-5
allele num: 57536
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.401e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

DP
type: SiteQuality
SIO_000300: 1.174651e6

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

GenotypeQuality
all individuals: 4359
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2725
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 7208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7914
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8962
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.198347107438017e-4
allele num: 14520
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57152
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.170638e6

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

QD
type: SiteQuality
SIO_000300: 1.414e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.203e0

GenotypeQuality
all individuals: 4237
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5128
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1229
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1517
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5264
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.55897216883764e-5
allele num: 56196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14234
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.861e1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.167052e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

GenotypeQuality
all individuals: 5844
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3180
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.356045613043069e-5
allele num: 42444
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 5.766e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.668e0

DP
type: SiteQuality
SIO_000300: 8.21614e5

QD
type: SiteQuality
SIO_000300: 7.09e0

GenotypeQuality
all individuals: 2147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 269
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5692
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 1

GenotypeQuality
all individuals: 12082
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2324
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5454
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.129471890971039e-4
allele num: 9392
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.767959313413859e-4
allele num: 6292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5456
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.271e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 1.01e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 8.23184e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

GenotypeQuality
all individuals: 1968
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15050
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5879
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5578
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
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variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1099
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7778
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variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2656
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.22029964127453e-4
allele num: 9478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42882
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

DP
type: SiteQuality
SIO_000300: 8.493e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.385e1

GenotypeQuality
all individuals: 3150
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7619
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1261
bin: 9.75e1
variant carriers: 84

GenotypeQuality
all individuals: 662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 482
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 758
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8472
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1865
bin: 4.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.37211855104281e-4
allele num: 43728
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.039717196922437e-4
allele num: 9618
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.62962962962963e-4
allele num: 6480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.466275659824047e-3
allele num: 682
num of homozygotes: 0

East Asian
type: Population
allele count: 72
allele frequency: 1.270737733851041e-2
allele num: 5666
num of homozygotes: 1

South Asian
type: Population
allele count: 7
allele frequency: 6.659056316590563e-4
allele num: 10512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.33e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 8.80282e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 3.235e0

VQSLOD
type: SiteQuality
SIO_000300: -9.320000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.604e1

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

GenotypeQuality
all individuals: 1381
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12092
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2603
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 960
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5524
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.232445930503238e-5
allele num: 47254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6982
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5732
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.998e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.77e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

DP
type: SiteQuality
SIO_000300: 1.022727e6

QD
type: SiteQuality
SIO_000300: 2.884e1

GenotypeQuality
all individuals: 2021
bin: 5.25e1
variant carriers: 588

GenotypeQuality
all individuals: 2494
bin: 3.75e1
variant carriers: 915

GenotypeQuality
all individuals: 2194
bin: 2.75e1
variant carriers: 799

GenotypeQuality
all individuals: 25613
bin: 2.5e0
variant carriers: 829

GenotypeQuality
all individuals: 2181
bin: 7.5e0
variant carriers: 687

GenotypeQuality
all individuals: 1154
bin: 7.25e1
variant carriers: 190

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 68

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 127

GenotypeQuality
all individuals: 1387
bin: 6.75e1
variant carriers: 249

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 56

GenotypeQuality
all individuals: 1890
bin: 1.25e1
variant carriers: 797

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 143

European (Finnish)
type: Population
allele count: 313
allele frequency: 1.038487060384871e-1
allele num: 3014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2592
allele frequency: 1.100636942675159e-1
allele num: 23550
num of homozygotes: 5

Other
type: Population
allele count: 32
allele frequency: 1.006289308176101e-1
allele num: 318
num of homozygotes: 0

African
type: Population
allele count: 367
allele frequency: 1.155541561712846e-1
allele num: 3176
num of homozygotes: 0

East Asian
type: Population
allele count: 296
allele frequency: 1.075581395348837e-1
allele num: 2752
num of homozygotes: 0

Latino
type: Population
allele count: 513
allele frequency: 1.073221757322176e-1
allele num: 4780
num of homozygotes: 0

South Asian
type: Population
allele count: 439
allele frequency: 1.063468992248062e-1
allele num: 4128
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.833e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.511e-1

QD
type: SiteQuality
SIO_000300: 3.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

FS
type: SiteQuality
SIO_000300: 3.789e0

DP
type: SiteQuality
SIO_000300: 9.60818e5

GenotypeQuality
all individuals: 2494
bin: 3.75e1
variant carriers: 149

GenotypeQuality
all individuals: 2194
bin: 2.75e1
variant carriers: 127

GenotypeQuality
all individuals: 2312
bin: 4.75e1
variant carriers: 102

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 45

GenotypeQuality
all individuals: 1908
bin: 1.75e1
variant carriers: 96

GenotypeQuality
all individuals: 2181
bin: 7.5e0
variant carriers: 114

GenotypeQuality
all individuals: 1706
bin: 6.25e1
variant carriers: 80

GenotypeQuality
all individuals: 1154
bin: 7.25e1
variant carriers: 55

GenotypeQuality
all individuals: 25613
bin: 2.5e0
variant carriers: 98

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 43

GenotypeQuality
all individuals: 1387
bin: 6.75e1
variant carriers: 66

GenotypeQuality
all individuals: 2300
bin: 2.25e1
variant carriers: 116

European (Finnish)
type: Population
allele count: 38
allele frequency: 1.26078301260783e-2
allele num: 3014
num of homozygotes: 0

African
type: Population
allele count: 57
allele frequency: 1.794710327455919e-2
allele num: 3176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 355
allele frequency: 1.507430997876858e-2
allele num: 23550
num of homozygotes: 0

Latino
type: Population
allele count: 86
allele frequency: 1.799163179916318e-2
allele num: 4780
num of homozygotes: 0

South Asian
type: Population
allele count: 71
allele frequency: 1.719961240310077e-2
allele num: 4128
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 1.257861635220126e-2
allele num: 318
num of homozygotes: 0

East Asian
type: Population
allele count: 55
allele frequency: 1.998546511627907e-2
allele num: 2752
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.833e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 3.43e0

FS
type: SiteQuality
SIO_000300: 3.789e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.511e-1

DP
type: SiteQuality
SIO_000300: 9.60818e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

GenotypeQuality
all individuals: 2627
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1387
bin: 6.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1908
bin: 1.75e1
variant carriers: 12

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 1706
bin: 6.25e1
variant carriers: 13

GenotypeQuality
all individuals: 1772
bin: 5.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2243
bin: 3.25e1
variant carriers: 15

GenotypeQuality
all individuals: 2323
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2021
bin: 5.25e1
variant carriers: 12

GenotypeQuality
all individuals: 1154
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 2300
bin: 2.25e1
variant carriers: 18

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.9907100199071e-3
allele num: 3014
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 3.14922480620155e-3
allele num: 4128
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 69
allele frequency: 2.929936305732484e-3
allele num: 23550
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 2.301255230125523e-3
allele num: 4780
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 4.722921914357683e-3
allele num: 3176
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 2.180232558139535e-3
allele num: 2752
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.789e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.511e-1

QD
type: SiteQuality
SIO_000300: 3.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

DP
type: SiteQuality
SIO_000300: 9.60818e5

MQ
type: SiteQuality
SIO_000300: 5.833e1

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 388

GenotypeQuality
all individuals: 1908
bin: 1.75e1
variant carriers: 1038

GenotypeQuality
all individuals: 2194
bin: 2.75e1
variant carriers: 1228

GenotypeQuality
all individuals: 2312
bin: 4.75e1
variant carriers: 1619

GenotypeQuality
all individuals: 2300
bin: 2.25e1
variant carriers: 1200

GenotypeQuality
all individuals: 2323
bin: 9.75e1
variant carriers: 1657

GenotypeQuality
all individuals: 25613
bin: 2.5e0
variant carriers: 830

GenotypeQuality
all individuals: 2243
bin: 3.25e1
variant carriers: 1273

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 588

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 678

GenotypeQuality
all individuals: 2021
bin: 5.25e1
variant carriers: 1298

GenotypeQuality
all individuals: 1154
bin: 7.25e1
variant carriers: 778

Other
type: Population
allele count: 114
allele frequency: 3.584905660377358e-1
allele num: 318
num of homozygotes: 0

African
type: Population
allele count: 1105
allele frequency: 3.479219143576826e-1
allele num: 3176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8269
allele frequency: 3.511252653927813e-1
allele num: 23550
num of homozygotes: 0

South Asian
type: Population
allele count: 1357
allele frequency: 3.287306201550387e-1
allele num: 4128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1103
allele frequency: 3.659588586595886e-1
allele num: 3014
num of homozygotes: 0

Latino
type: Population
allele count: 1706
allele frequency: 3.569037656903766e-1
allele num: 4780
num of homozygotes: 0

East Asian
type: Population
allele count: 953
allele frequency: 3.462936046511628e-1
allele num: 2752
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 3.789e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.511e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 9.60818e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

GenotypeQuality
all individuals: 1706
bin: 6.25e1
variant carriers: 169

GenotypeQuality
all individuals: 1154
bin: 7.25e1
variant carriers: 157

GenotypeQuality
all individuals: 613
bin: 8.75e1
variant carriers: 84

GenotypeQuality
all individuals: 2494
bin: 3.75e1
variant carriers: 157

GenotypeQuality
all individuals: 1908
bin: 1.75e1
variant carriers: 173

GenotypeQuality
all individuals: 2312
bin: 4.75e1
variant carriers: 131

GenotypeQuality
all individuals: 1772
bin: 5.75e1
variant carriers: 154

GenotypeQuality
all individuals: 1387
bin: 6.75e1
variant carriers: 167

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 112

GenotypeQuality
all individuals: 967
bin: 7.75e1
variant carriers: 115

GenotypeQuality
all individuals: 2323
bin: 9.75e1
variant carriers: 250

GenotypeQuality
all individuals: 2300
bin: 2.25e1
variant carriers: 148

Other
type: Population
allele count: 18
allele frequency: 5.660377358490566e-2
allele num: 318
num of homozygotes: 0

East Asian
type: Population
allele count: 130
allele frequency: 4.723837209302326e-2
allele num: 2752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 109
allele frequency: 3.616456536164565e-2
allele num: 3014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1157
allele frequency: 4.912951167728238e-2
allele num: 23550
num of homozygotes: 0

South Asian
type: Population
allele count: 289
allele frequency: 7.000968992248062e-2
allele num: 4128
num of homozygotes: 0

African
type: Population
allele count: 119
allele frequency: 3.746851385390428e-2
allele num: 3176
num of homozygotes: 0

Latino
type: Population
allele count: 234
allele frequency: 4.895397489539749e-2
allele num: 4780
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

FS
type: SiteQuality
SIO_000300: 3.789e0

QD
type: SiteQuality
SIO_000300: 3.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.511e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.60818e5

African
type: Population
allele count: 8
allele frequency: 2.518891687657431e-3
allele num: 3176
num of homozygotes: 0

East Asian
type: Population
allele count: 50
allele frequency: 1.816860465116279e-2
allele num: 2752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 108
allele frequency: 4.585987261146496e-3
allele num: 23550
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.833e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.511e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.43e0

DP
type: SiteQuality
SIO_000300: 9.60818e5

FS
type: SiteQuality
SIO_000300: 3.789e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

GenotypeQuality
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2427
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5920
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7936
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.689531661823343e-5
allele num: 59188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.162e0

DP
type: SiteQuality
SIO_000300: 1.54186e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.389e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.798e-1

GenotypeQuality
all individuals: 6685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16675
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.613684040664838e-5
allele num: 61970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15758
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.037e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 1.3757e1

MQRankSum
type: SiteQuality
SIO_000300: -1.604e0

MQ
type: SiteQuality
SIO_000300: 5.88e1

VQSLOD
type: SiteQuality
SIO_000300: -2.052e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.553133e6

QD
type: SiteQuality
SIO_000300: 1.869e1

GenotypeQuality
all individuals: 2056
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 1670
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variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.974067424695791e-5
allele num: 10026
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4342
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.713502398903359e-4
allele num: 5836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.440532417346501e-5
allele num: 46580
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.76e-1

FS
type: SiteQuality
SIO_000300: 3.5101e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.99e-1

DP
type: SiteQuality
SIO_000300: 1.501727e6

MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.68e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.529e0

QD
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.7e-1

GenotypeQuality
all individuals: 3185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 878
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.313782019418762e-5
allele num: 60354
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.706e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

DP
type: SiteQuality
SIO_000300: 1.488998e6

VQSLOD
type: SiteQuality
SIO_000300: -3.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.87e-1

FS
type: SiteQuality
SIO_000300: 9.416e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

QD
type: SiteQuality
SIO_000300: 1.97e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 680
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variant carriers: 0

GenotypeQuality
all individuals: 1803
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1754
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variant carriers: 0

GenotypeQuality
all individuals: 8969
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.183598102575531e-5
allele num: 62822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

FS
type: SiteQuality
SIO_000300: 7.124e0

QD
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.686e0

DP
type: SiteQuality
SIO_000300: 1.498736e6

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.773e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.131e0

GenotypeQuality
all individuals: 5355
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variant carriers: 0

GenotypeQuality
all individuals: 519
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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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1515
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 627
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variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563086157308991e-5
allele num: 63976
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.573366e6

MQ
type: SiteQuality
SIO_000300: 5.83e1

FS
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.82e-1

QD
type: SiteQuality
SIO_000300: 9.26e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.24e0

GenotypeQuality
all individuals: 1121
bin: 1.25e1
variant carriers: 20

GenotypeQuality
all individuals: 2617
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variant carriers: 3

GenotypeQuality
all individuals: 23621
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GenotypeQuality
all individuals: 1111
bin: 7.5e0
variant carriers: 22

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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variant carriers: 19

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 1679
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 796
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.94000594000594e-4
allele num: 13468
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.687921980495124e-3
allele num: 5332
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.297690111601349e-4
allele num: 7706
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.919017463058914e-4
allele num: 10422
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.899008966493629e-4
allele num: 8476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.41040856694632e-4
allele num: 58644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.752704e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.048e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

FS
type: SiteQuality
SIO_000300: 4.3811e1

MQ
type: SiteQuality
SIO_000300: 5.892e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.034e1

QD
type: SiteQuality
SIO_000300: 1.2e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2615
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GenotypeQuality
all individuals: 882
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53955106690889e-5
allele num: 64954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.012e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 9.75e0

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

DP
type: SiteQuality
SIO_000300: 1.68867e6

FS
type: SiteQuality
SIO_000300: 2.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 891
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GenotypeQuality
all individuals: 2503
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 5.168849069607167e-4
allele num: 5804
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.221226825930074e-5
allele num: 16074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.095783542814686e-5
allele num: 64604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.700032e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.669e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 3.8263e1

VQSLOD
type: SiteQuality
SIO_000300: -8.641999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2909
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2658
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.028171910343409e-4
allele num: 9726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.383063570255688e-4
allele num: 8526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047015448368323e-5
allele num: 65638
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.359e0

FS
type: SiteQuality
SIO_000300: 4.582e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 3.077e1

MQ
type: SiteQuality
SIO_000300: 5.817e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.717149e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 227
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38305
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521699433927811e-5
allele num: 65716
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.212e0

VQSLOD
type: SiteQuality
SIO_000300: -2.284e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 2.086e1

MQ
type: SiteQuality
SIO_000300: 5.89e1

DP
type: SiteQuality
SIO_000300: 1.719646e6

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

GenotypeQuality
all individuals: 33849
bin: 6.25e1
variant carriers: 59

GenotypeQuality
all individuals: 1011
bin: 2.25e1
variant carriers: 56

GenotypeQuality
all individuals: 1961
bin: 7.25e1
variant carriers: 45

GenotypeQuality
all individuals: 1074
bin: 8.25e1
variant carriers: 44

GenotypeQuality
all individuals: 6038
bin: 6.75e1
variant carriers: 67

GenotypeQuality
all individuals: 641
bin: 3.25e1
variant carriers: 45

GenotypeQuality
all individuals: 1210
bin: 5.75e1
variant carriers: 53

GenotypeQuality
all individuals: 678
bin: 3.75e1
variant carriers: 34

GenotypeQuality
all individuals: 924
bin: 4.75e1
variant carriers: 61

GenotypeQuality
all individuals: 1086
bin: 5.25e1
variant carriers: 46

GenotypeQuality
all individuals: 593
bin: 8.75e1
variant carriers: 53

GenotypeQuality
all individuals: 4117
bin: 9.75e1
variant carriers: 2565

GenotypeQuality
all individuals: 1828
bin: 7.75e1
variant carriers: 51

GenotypeQuality
all individuals: 766
bin: 4.25e1
variant carriers: 40

African
type: Population
allele count: 503
allele frequency: 5.654226618705036e-2
allele num: 8896
num of homozygotes: 0

Latino
type: Population
allele count: 81
allele frequency: 7.3449401523395e-3
allele num: 11028
num of homozygotes: 0

Other
type: Population
allele count: 41
allele frequency: 5.049261083743842e-2
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 26
allele frequency: 1.599015990159902e-3
allele num: 16260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 627
allele frequency: 1.188850967007964e-1
allele num: 5274
num of homozygotes: 0

East Asian
type: Population
allele count: 149
allele frequency: 1.815744577138679e-2
allele num: 8206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1900
allele frequency: 3.043018674525129e-2
allele num: 62438
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.76e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.58e0

VQSLOD
type: SiteQuality
SIO_000300: -1.923e2

FS
type: SiteQuality
SIO_000300: 2.06223e2

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 1.895998e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

MQ
type: SiteQuality
SIO_000300: 5.864e1

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7684
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variant carriers: 1

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
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variant carriers: 0

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 3284
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variant carriers: 0

GenotypeQuality
all individuals: 681
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variant carriers: 0

GenotypeQuality
all individuals: 2491
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variant carriers: 0

GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 1472
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variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39861
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.974067424695791e-5
allele num: 10026
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.69634e2

QD
type: SiteQuality
SIO_000300: 1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.123e0

VQSLOD
type: SiteQuality
SIO_000300: -1.342e2

MQ
type: SiteQuality
SIO_000300: 5.521e1

DP
type: SiteQuality
SIO_000300: 1.728136e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.863e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.331e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

GenotypeQuality
all individuals: 2892
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
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variant carriers: 0

GenotypeQuality
all individuals: 722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40657
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 3.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509889778046203e-5
allele num: 66230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 5.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 1.393e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.718938e6

GenotypeQuality
all individuals: 446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
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variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66344
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.219e1

VQSLOD
type: SiteQuality
SIO_000300: -3.149e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

DP
type: SiteQuality
SIO_000300: 1.721661e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.097e0

FS
type: SiteQuality
SIO_000300: 3.473e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

QD
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 2536
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
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variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
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GenotypeQuality
all individuals: 2885
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 41069
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506886471173262e-5
allele num: 66362
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.549e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.029e0

DP
type: SiteQuality
SIO_000300: 1.722236e6

QD
type: SiteQuality
SIO_000300: 8.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e-1

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41073
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variant carriers: 0

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

GenotypeQuality
all individuals: 2888
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2499
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10168
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.196e0

MQRankSum
type: SiteQuality
SIO_000300: 6.5e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

VQSLOD
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.482e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.722828e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
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variant carriers: 0

GenotypeQuality
all individuals: 41151
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GenotypeQuality
all individuals: 7839
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2886
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 721
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506024096385542e-5
allele num: 66400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.72359e6

QD
type: SiteQuality
SIO_000300: 8.300000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -6.153999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-1

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

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 114
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.021738475897992e-5
allele num: 66426
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.844e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.723496e6

FS
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.05e1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
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: 6572
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.863e1

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.724141e6

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.661e-1

FS
type: SiteQuality
SIO_000300: 3.199e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504845602841149e-5
allele num: 66452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.724195e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.009e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.274e0

FS
type: SiteQuality
SIO_000300: 7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

MQ
type: SiteQuality
SIO_000300: 5.905e1

DP
type: SiteQuality
SIO_000300: 1.724838e6

QD
type: SiteQuality
SIO_000300: 1.219e1

GenotypeQuality
all individuals: 405
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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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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

GenotypeQuality
all individuals: 2535
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

FS
type: SiteQuality
SIO_000300: 4.134e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.724167e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
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: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.723758e6

MQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 7.611e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

MQ
type: SiteQuality
SIO_000300: 5.85e1

GenotypeQuality
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bin: 6.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.070171178827243e-5
allele num: 16474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.224e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.721348e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.467e1

MQRankSum
type: SiteQuality
SIO_000300: -2.13e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 3

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.518208379770475e-5
allele num: 66398
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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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
allele num: 8612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.45e-1

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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bin: 8.75e1
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Other
type: Population
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allele num: 904
num of homozygotes: 0

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

South Asian
type: Population
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allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.777082518576456e-5
allele num: 10228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.399e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQ
type: SiteQuality
SIO_000300: 5.932e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

DP
type: SiteQuality
SIO_000300: 1.720341e6

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40629
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7720
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2505
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506614035616356e-5
allele num: 66374
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.719205e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

FS
type: SiteQuality
SIO_000300: 8.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

VQSLOD
type: SiteQuality
SIO_000300: -1.506e0

MQRankSum
type: SiteQuality
SIO_000300: -4.59e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.393e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.773e1

GenotypeQuality
all individuals: 795
bin: 2.75e1
variant carriers: 6

GenotypeQuality
all individuals: 970
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 895
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 36559
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 7.5e0
variant carriers: 19

GenotypeQuality
all individuals: 1012
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 928
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1894
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 514
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.026023804720597e-4
allele num: 9914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.392019073911406e-4
allele num: 15938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.45632798573975e-4
allele num: 11220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 26
allele frequency: 4.066439363133035e-4
allele num: 63938
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.403846153846154e-4
allele num: 8320
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.789792e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 1.702e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 351
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 928
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36559
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 895
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 514
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 352
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 388
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 943
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1894
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6402
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 484
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 795
bin: 2.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.274312962730582e-5
allele num: 15938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.546072974644403e-4
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.912655971479501e-5
allele num: 11220
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.008674601573532e-4
allele num: 9914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.033219681566518e-4
allele num: 63938
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

QD
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.789792e6

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 1.702e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

GenotypeQuality
all individuals: 1078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1989
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 7213
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 322
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66150
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.769441187964049e-5
allele num: 10236
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.13e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

FS
type: SiteQuality
SIO_000300: 8.143000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.683613e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41825
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variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1980
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66100
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

FS
type: SiteQuality
SIO_000300: 3.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.507e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.595e1

DP
type: SiteQuality
SIO_000300: 1.679631e6

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 523
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variant carriers: 0

GenotypeQuality
all individuals: 42011
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variant carriers: 0

GenotypeQuality
all individuals: 304
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 369
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512996641147457e-5
allele num: 66094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.863e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

FS
type: SiteQuality
SIO_000300: 1.9687e1

QD
type: SiteQuality
SIO_000300: 1.506e1

DP
type: SiteQuality
SIO_000300: 1.679419e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

GenotypeQuality
all individuals: 1897
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
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GenotypeQuality
all individuals: 1034
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 719
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2355
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 520
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524250830716703e-5
allele num: 65606
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.341e0

VQSLOD
type: SiteQuality
SIO_000300: 3.44e-1

FS
type: SiteQuality
SIO_000300: 3.624e0

DP
type: SiteQuality
SIO_000300: 1.652756e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2206
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
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variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39710
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.813542688910697e-5
allele num: 10190
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

VQSLOD
type: SiteQuality
SIO_000300: -8.177e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.012e0

DP
type: SiteQuality
SIO_000300: 1.640931e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

QD
type: SiteQuality
SIO_000300: 1.04e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.163e1

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 804
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1866
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38367
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11302
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.537137235612395e-5
allele num: 65056
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.895e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.803e0

FS
type: SiteQuality
SIO_000300: 1.837e0

MQRankSum
type: SiteQuality
SIO_000300: -7.35e-1

QD
type: SiteQuality
SIO_000300: 7.93e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.68e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.251e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.269e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 46

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.615526631588664e-5
allele num: 64998
num of homozygotes: 0

South Asian
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allele count: 45
allele frequency: 2.772984964259305e-3
allele num: 16228
num of homozygotes: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.239e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.923e1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

FS
type: SiteQuality
SIO_000300: 2.624e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.006234760332109e-4
allele num: 64798
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

QD
type: SiteQuality
SIO_000300: 1.254e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.612697e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.7e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 1.973164956590371e-4
allele num: 10136
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64820
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.69e0

QD
type: SiteQuality
SIO_000300: 1.548e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

FS
type: SiteQuality
SIO_000300: 5.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.606233e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

African
type: Population
allele count: 126
allele frequency: 1.244813278008299e-2
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.567606136282554e-4
allele num: 11212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64448
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: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.593041e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 1.115e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.360014293371449e-4
allele num: 11194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.232e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

QD
type: SiteQuality
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DP
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SIO_000300: 1.585029e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553422189082549e-5
allele num: 64374
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.749e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11004
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63080
num of homozygotes: 0

South Asian
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allele count: 15
allele frequency: 9.364464976900986e-4
allele num: 16018
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.349e0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.05e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62724
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African
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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 count: 1
allele frequency: 6.272738677706687e-5
allele num: 15942
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4416
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15752
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.254254938331869e-5
allele num: 61458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.462e1

DP
type: SiteQuality
SIO_000300: 1.428715e6

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.181e0

GenotypeQuality
all individuals: 147
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.632066849458154e-5
allele num: 61272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.418039e6

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

QD
type: SiteQuality
SIO_000300: 1.014e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.593e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

GenotypeQuality
all individuals: 498
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 735
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26492
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.039068994181214e-4
allele num: 9624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8112
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

QD
type: SiteQuality
SIO_000300: 7.33e0

DP
type: SiteQuality
SIO_000300: 1.400874e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.143e0

MQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

GenotypeQuality
all individuals: 5069
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
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

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.081782778018174e-4
allele num: 9244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6230
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

FS
type: SiteQuality
SIO_000300: 6.824e0

MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 1.294853e6

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.159e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

GenotypeQuality
all individuals: 3047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5697
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variant carriers: 0

GenotypeQuality
all individuals: 1271
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variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 1124
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variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 821
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variant carriers: 0

GenotypeQuality
all individuals: 912
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GenotypeQuality
all individuals: 11042
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variant carriers: 0

GenotypeQuality
all individuals: 4044
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3015
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.636580833554553e-5
allele num: 15068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.488940060009769e-5
allele num: 57324
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.226e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

DP
type: SiteQuality
SIO_000300: 1.257594e6

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.945e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 5183
bin: 3.25e1
variant carriers: 18

GenotypeQuality
all individuals: 1447
bin: 1.75e1
variant carriers: 21

GenotypeQuality
all individuals: 2736
bin: 6.75e1
variant carriers: 27

GenotypeQuality
all individuals: 784
bin: 7.5e0
variant carriers: 15

GenotypeQuality
all individuals: 11869
bin: 2.25e1
variant carriers: 15

GenotypeQuality
all individuals: 1178
bin: 7.75e1
variant carriers: 34

GenotypeQuality
all individuals: 2875
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 435
bin: 8.75e1
variant carriers: 46

GenotypeQuality
all individuals: 4668
bin: 3.75e1
variant carriers: 12

GenotypeQuality
all individuals: 773
bin: 8.25e1
variant carriers: 46

GenotypeQuality
all individuals: 1015
bin: 7.25e1
variant carriers: 26

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 48

Other
type: Population
allele count: 34
allele frequency: 4.086538461538462e-2
allele num: 832
num of homozygotes: 1

East Asian
type: Population
allele count: 2
allele frequency: 2.593360995850622e-4
allele num: 7712
num of homozygotes: 0

African
type: Population
allele count: 537
allele frequency: 5.956078083407276e-2
allele num: 9016
num of homozygotes: 15

Latino
type: Population
allele count: 262
allele frequency: 2.657200811359026e-2
allele num: 9860
num of homozygotes: 6

South Asian
type: Population
allele count: 610
allele frequency: 4.068836712913554e-2
allele num: 14992
num of homozygotes: 16

European (Non-Finnish)
type: Population
allele count: 2805
allele frequency: 4.924854273474261e-2
allele num: 56956
num of homozygotes: 76

European (Finnish)
type: Population
allele count: 136
allele frequency: 2.227317392728464e-2
allele num: 6106
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.457e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

DP
type: SiteQuality
SIO_000300: 1.260993e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 11869
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1447
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2736
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
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GenotypeQuality
all individuals: 6175
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5183
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4668
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7712
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.668089647812167e-4
allele num: 14992
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755741273965869e-5
allele num: 56956
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.26e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.260993e6

QD
type: SiteQuality
SIO_000300: 1.457e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-1

GenotypeQuality
all individuals: 27975
bin: 9.75e1
variant carriers: 27699

GenotypeQuality
all individuals: 826
bin: 4.25e1
variant carriers: 730

GenotypeQuality
all individuals: 1234
bin: 2.5e0
variant carriers: 132

GenotypeQuality
all individuals: 1587
bin: 3.25e1
variant carriers: 948

GenotypeQuality
all individuals: 1470
bin: 3.75e1
variant carriers: 1208

GenotypeQuality
all individuals: 844
bin: 8.25e1
variant carriers: 729

GenotypeQuality
all individuals: 963
bin: 7.75e1
variant carriers: 752

GenotypeQuality
all individuals: 597
bin: 8.75e1
variant carriers: 528

GenotypeQuality
all individuals: 1461
bin: 6.75e1
variant carriers: 831

GenotypeQuality
all individuals: 712
bin: 5.75e1
variant carriers: 599

GenotypeQuality
all individuals: 1267
bin: 5.25e1
variant carriers: 1197

GenotypeQuality
all individuals: 5939
bin: 6.25e1
variant carriers: 972

European (Finnish)
type: Population
allele count: 3026
allele frequency: 5.077181208053692e-1
allele num: 5960
num of homozygotes: 711

South Asian
type: Population
allele count: 7638
allele frequency: 5.137207425343019e-1
allele num: 14868
num of homozygotes: 1950

Latino
type: Population
allele count: 4873
allele frequency: 5.17413463580378e-1
allele num: 9418
num of homozygotes: 1132

East Asian
type: Population
allele count: 3528
allele frequency: 4.697736351531291e-1
allele num: 7510
num of homozygotes: 740

European (Non-Finnish)
type: Population
allele count: 26775
allele frequency: 4.882029027787907e-1
allele num: 54844
num of homozygotes: 5881

African
type: Population
allele count: 1723
allele frequency: 1.971847104600595e-1
allele num: 8738
num of homozygotes: 138

Other
type: Population
allele count: 365
allele frequency: 4.506172839506173e-1
allele num: 810
num of homozygotes: 81

QD
type: SiteQuality
SIO_000300: 2.072e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.279673e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

FS
type: SiteQuality
SIO_000300: 7.82e-1

GenotypeQuality
all individuals: 3774
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 249
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.927699381639449e-5
allele num: 12614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.495e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.504e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e0

VQSLOD
type: SiteQuality
SIO_000300: -4.605e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.739e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.667e1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

DP
type: SiteQuality
SIO_000300: 9.02265e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.4e-3