19-49513707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513707
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513707
    reference: chr 19
allele count: 1
allele frequency: 8.375209380234507e-6
allele num: 119400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1035C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-38C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3897
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5008
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

19-49513712-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513712
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513712
    reference: chr 19
allele count: 2
allele frequency: 1.673556139440698e-5
allele num: 119506
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-33C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-33C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-33C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-33C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-33C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1040C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17237
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

19-49513713-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513713
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513713
    reference: chr 19
allele count: 2
allele frequency: 1.673164120668596e-5
allele num: 119534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-32T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-32T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-32T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-32T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-32T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1041T>C
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8135
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11200
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8956
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17404
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

19-49513715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513715
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513715
    reference: chr 19
allele count: 4
allele frequency: 3.347000251025019e-5
allele num: 119510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-30C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-30C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-30C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1043C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-30C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-30C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5036
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

19-49513716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513716
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513716
    reference: chr 19
allele count: 6492
allele frequency: 5.429818838761479e-2
allele num: 119562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1044G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-29G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-29G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-29G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-29G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-29G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.75e1
  variant carriers: 400
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 6.25e1
  variant carriers: 335
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 1924
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 5.25e1
  variant carriers: 280
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 4.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 5.75e1
  variant carriers: 318
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 3.25e1
  variant carriers: 125
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 6.75e1
  variant carriers: 412
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.25e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 354
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 391
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 7.25e1
  variant carriers: 407
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 4.25e1
  variant carriers: 159
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17391
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8857
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 8.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14793
  bin: 9.75e1
  variant carriers: 6230
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4943
  bin: 7.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 3
num of homozygotes: 213
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-49513716-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513716
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513716
    reference: chr 19
allele count: 1
allele frequency: 8.363861427543869e-6
allele num: 119562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1044G>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-29G>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-29G>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-29G>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-29G>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-29G>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14793
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8857
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

19-49513718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513718
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513718
    reference: chr 19
allele count: 15
allele frequency: 1.253321301448839e-4
allele num: 119682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-27C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-27C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-27C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-27C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1046C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-27C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8775
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9764
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

19-49513719-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513719
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513719
    reference: chr 19
allele count: 15
allele frequency: 1.253237530286574e-4
allele num: 119690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-26G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-26G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-26G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1047G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-26G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-26G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9706
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9756
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4285
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19542
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

19-49513720-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513720
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513720
    reference: chr 19
allele count: 6
allele frequency: 5.011359080582654e-5
allele num: 119728
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-25T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-25T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-25T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-25T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1048T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-25T>C
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4008
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-49513721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513721
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513721
    reference: chr 19
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-24T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-24T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-24T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-24T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-24T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1049T>C
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6179
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

19-49513724-T-TCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513727
    reference: chr 19
allele count: 9
allele frequency: 7.516787492065613e-5
allele num: 119732
alternate allele: TCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-18_529-16dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-18_653-16dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-18_664-16dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1055_1057dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-18_*581-16dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-18_529-16dupCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 10020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

19-49513724-T-TCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513728
    reference: chr 19
allele count: 7
allele frequency: 5.846390271606588e-5
allele num: 119732
alternate allele: TCCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-19_529-16dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1054_1057dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-19_664-16dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-19_529-16dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-19_653-16dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-19_*581-16dupCCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4001
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9620
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19457
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-49513724-T-TCCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513729
    reference: chr 19
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: TCCCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-20_529-16dupCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-20_664-16dupCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1053_1057dupCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-20_*581-16dupCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-20_653-16dupCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-20_529-16dupCCCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-49513724-T-TCCCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513730
    reference: chr 19
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: TCCCCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-16_529-15insCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-16_529-15insCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-16_664-15insCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1057_1058insCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-16_*581-15insCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-16_653-15insCCCCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2976
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5564
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-49513724-T-TCCCCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513731
    reference: chr 19
allele count: 4
allele frequency: 3.34079444091805e-5
allele num: 119732
alternate allele: TCCCCCCC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-16_653-15insCCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1057_1058insCCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-16_664-15insCCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-16_*581-15insCCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-16_529-15insCCCCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-16_529-15insCCCCCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9801
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6162
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10020
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/19-49513730-A-ACCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513733
    reference: chr 19
allele count: 1
allele frequency: 9.363821937562035e-6
allele num: 106794
alternate allele: ACCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-12_529-10dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-12_664-10dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1061_1063dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-12_653-10dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-12_529-10dupCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-12_*581-10dupCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-49513730-A-ACCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513734
    reference: chr 19
allele count: 1
allele frequency: 9.363821937562035e-6
allele num: 106794
alternate allele: ACCCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-13_529-10dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1060_1063dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-13_*581-10dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-13_664-10dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-13_653-10dupCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-13_529-10dupCCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8834
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/19-49513730-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513730
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513730
    reference: chr 19
allele count: 1917
allele frequency: 1.795044665430642e-2
allele num: 106794
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-15A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-15A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-15A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-15A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1058A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-15A>C
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 12496
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9887
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 4.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 6.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 9.75e1
  variant carriers: 1323
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 9.25e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 2.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 5.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4485
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 8834
  bin: 6.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 8.75e1
  variant carriers: 8
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

19-49513731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513731
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513731
    reference: chr 19
allele count: 3
allele frequency: 2.504508114606291e-5
allele num: 119784
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-14C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-14C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-14C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1059C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-14C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-14C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6639
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12973
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-49513733-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513733
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513733
    reference: chr 19
allele count: 26
allele frequency: 2.168582247652093e-4
allele num: 119894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-12C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-12C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-12C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1061C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-12C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-12C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 8767
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12987
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 9392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

19-49513734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513734
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513734
    reference: chr 19
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-11C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-11C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-11C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-11C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1062C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-11C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12966
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-49513736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513736
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513736
    reference: chr 19
allele count: 45
allele frequency: 3.926770100699838e-4
allele num: 114598
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-9G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-9G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-9G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-9G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1064G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-9G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 8590
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13008
  bin: 9.75e1
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17062
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

19-49513736-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513736
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513736
    reference: chr 19
allele count: 8139
allele frequency: 7.102218188799106e-2
allele num: 114598
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-9G>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-9G>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-9G>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1064G>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-9G>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-9G>C
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 5.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 6.75e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 8.75e1
  variant carriers: 636
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.75e1
  variant carriers: 495
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 8.25e1
  variant carriers: 568
genotype depth: GenotypeDepth
  all individuals: 8799
  bin: 3.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 6.25e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 430
genotype depth: GenotypeDepth
  all individuals: 5914
  bin: 4.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 5.25e1
  variant carriers: 105
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 3.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.25e1
  variant carriers: 596
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 4.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 5751
  bin: 9.75e1
  variant carriers: 4410
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 2.5e0
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 17062
  bin: 6.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 3220
  bin: 8.25e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 9.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 8590
  bin: 6.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 2.75e1
  variant carriers: 29
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-49513739-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513739
    reference: chr 19
allele count: 2
allele frequency: 1.664225802156837e-5
allele num: 120176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-6C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-6C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-6C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-6C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1067C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-6C>A
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12729
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
hgvs: c.664-6C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49513739-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513739
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513739
    reference: chr 19
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-6C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-6C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-6C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-6C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1067C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-6C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12729
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3745
  bin: 7.25e1
  variant carriers: 0
hgvs: c.664-6C>T
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-49513740-CATAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513740
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513735
    reference: chr 19
allele count: 1143
allele frequency: 9.509942590897746e-3
allele num: 120190
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-4_653delATAGA
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-4_529delATAGA
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-4_529delATAGA
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1069_1073delATAGA
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-4_664delATAGA
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-4_*581delATAGA
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: splice acceptor
filter: VQSRTrancheINDEL99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9523
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 9.75e1
  variant carriers: 1110
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4953
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3747
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
hgvs: c.664-4_664delATAGA
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: CATAGA
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/19-49513741-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513741
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513741
    reference: chr 19
allele count: 20
allele frequency: 1.881644557343118e-4
allele num: 106290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-4A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-4A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1069A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-4A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-4A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-4A>C
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3916
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19510
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5477
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2308
  bin: 9.25e1
  variant carriers: 0
hgvs: c.664-4A>C
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

19-49513742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513742
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513742
    reference: chr 19
allele count: 37
allele frequency: 3.142357277529598e-4
allele num: 117746
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1070T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.664-3T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.529-3T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*581-3T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.653-3T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.529-3T>C
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14965
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21845
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
hgvs: c.664-3T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

19-49513753-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513753
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513753
    reference: chr 19
allele count: 2
allele frequency: 1.662151156026129e-5
allele num: 120326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1081C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.661C>T
  hgvsp: ENSP00000221413.6:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.537C>T
  hgvsp: ENST00000413176.2:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.672C>T
  hgvsp: ENST00000595090.1:c.672C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*589C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.537C>T
  hgvsp: ENST00000601968.1:c.537C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg221Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

19-49513754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513754
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513754
    reference: chr 19
allele count: 9
allele frequency: 7.478810038225029e-5
allele num: 120340
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.673G>A
  hgvsp: ENSP00000473172.1:p.Val225Met
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.538G>A
  hgvsp: ENSP00000471524.1:p.Val180Met
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.538G>A
  hgvsp: ENSP00000413890.2:p.Val180Met
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.662G>A
  hgvsp: ENSP00000221413.6:p.Arg221His
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*590G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1082G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6916
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 22792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val225Met
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-49513754-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513754
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513754
    reference: chr 19
allele count: 4
allele frequency: 3.323915572544457e-5
allele num: 120340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.538G>C
  hgvsp: ENSP00000471524.1:p.Val180Leu
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.662G>C
  hgvsp: ENSP00000221413.6:p.Arg221Pro
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.673G>C
  hgvsp: ENSP00000473172.1:p.Val225Leu
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.538G>C
  hgvsp: ENSP00000413890.2:p.Val180Leu
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1082G>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*590G>C
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4249
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22792
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val225Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

19-49513756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513756
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513756
    reference: chr 19
allele count: 3
allele frequency: 2.492522432701894e-5
allele num: 120360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.664G>A
  hgvsp: ENSP00000221413.6:p.Ala222Thr
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*592G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.540G>A
  hgvsp: ENST00000601968.1:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.675G>A
  hgvsp: ENST00000595090.1:c.675G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.540G>A
  hgvsp: ENST00000413176.2:c.540G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1084G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5731
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala222Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-49513775-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513775
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513775
    reference: chr 19
allele count: 1
allele frequency: 8.297928836962294e-6
allele num: 120512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.559C>A
  hgvsp: ENSP00000471524.1:p.Leu187Ile
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1103C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.559C>A
  hgvsp: ENSP00000413890.2:p.Leu187Ile
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.694C>A
  hgvsp: ENSP00000473172.1:p.Leu232Ile
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.683C>A
  hgvsp: ENSP00000221413.6:p.Ala228Asp
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*611C>A
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10801
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu232Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

19-49513785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513785
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513785
    reference: chr 19
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.569G>A
  hgvsp: ENSP00000413890.2:p.Arg190His
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1113G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*621G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.569G>A
  hgvsp: ENSP00000471524.1:p.Arg190His
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.704G>A
  hgvsp: ENSP00000473172.1:p.Arg235His
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.693G>A
  hgvsp: ENST00000221413.6:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg235His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/19-49513802-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513802
    reference: chr 19
allele count: 2
allele frequency: 1.659172736473594e-5
allele num: 120542
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.710A>C
  hgvsp: ENSP00000221413.6:p.His237Pro
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.721A>C
  hgvsp: ENSP00000473172.1:p.Thr241Pro
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*638A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1130A>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.586A>C
  hgvsp: ENSP00000413890.2:p.Thr196Pro
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.586A>C
  hgvsp: ENSP00000471524.1:p.Thr196Pro
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11108
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr241Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

19-49513802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513802
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513802
    reference: chr 19
allele count: 1
allele frequency: 8.295863682367972e-6
allele num: 120542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.586A>G
  hgvsp: ENSP00000471524.1:p.Thr196Ala
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.586A>G
  hgvsp: ENSP00000413890.2:p.Thr196Ala
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.710A>G
  hgvsp: ENSP00000221413.6:p.His237Arg
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*638A>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1130A>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.721A>G
  hgvsp: ENSP00000473172.1:p.Thr241Ala
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr241Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-49513804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513804
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513804
    reference: chr 19
allele count: 2
allele frequency: 1.659117681217129e-5
allele num: 120546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.712C>T
  hgvsp: ENSP00000221413.6:p.Arg238Cys
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.588C>T
  hgvsp: ENST00000413176.2:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1132C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.723C>T
  hgvsp: ENST00000595090.1:c.723C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.588C>T
  hgvsp: ENST00000601968.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*640C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6903
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg238Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-49513805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513805
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513805
    reference: chr 19
allele count: 3
allele frequency: 2.488593944421402e-5
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*641G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.589G>A
  hgvsp: ENSP00000471524.1:p.Val197Met
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.713G>A
  hgvsp: ENSP00000221413.6:p.Arg238His
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.724G>A
  hgvsp: ENSP00000473172.1:p.Val242Met
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1133G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.589G>A
  hgvsp: ENSP00000413890.2:p.Val197Met
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10800
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12356
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6901
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val242Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-49513807-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513807
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513807
    reference: chr 19
allele count: 1
allele frequency: 8.295450774795103e-6
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1135G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.591G>A
  hgvsp: ENST00000601968.1:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.591G>A
  hgvsp: ENST00000413176.2:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.715G>A
  hgvsp: ENSP00000221413.6:p.Val239Ile
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*643G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.726G>A
  hgvsp: ENST00000595090.1:c.726G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11101
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val239Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

19-49513808-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513808
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513808
    reference: chr 19
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1136T>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.727T>G
  hgvsp: ENSP00000473172.1:p.Ser243Ala
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.716T>G
  hgvsp: ENSP00000221413.6:p.Val239Gly
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.592T>G
  hgvsp: ENSP00000413890.2:p.Ser198Ala
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*644T>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.592T>G
  hgvsp: ENSP00000471524.1:p.Ser198Ala
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6898
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser243Ala
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-49513809-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513809
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513809
    reference: chr 19
allele count: 1
allele frequency: 8.29531314807134e-6
allele num: 120550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.593C>A
  hgvsp: ENSP00000471524.1:p.Ser198Tyr
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.717C>A
  hgvsp: ENST00000221413.6:c.717C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.593C>A
  hgvsp: ENSP00000413890.2:p.Ser198Tyr
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1137C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*645C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.728C>A
  hgvsp: ENSP00000473172.1:p.Ser243Tyr
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6897
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser243Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-49513811-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513811
    reference: chr 19
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.730C>G
  hgvsp: ENSP00000473172.1:p.Leu244Val
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.719C>G
  hgvsp: ENSP00000221413.6:p.Pro240Arg
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.595C>G
  hgvsp: ENSP00000413890.2:p.Leu199Val
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*647C>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1139C>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.595C>G
  hgvsp: ENSP00000471524.1:p.Leu199Val
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu244Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

19-49513816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513816
    reference: chr 19
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1144C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.600C>T
  hgvsp: ENST00000413176.2:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.600C>T
  hgvsp: ENST00000601968.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.724C>T
  hgvsp: ENSP00000221413.6:p.Arg242Ter
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.735C>T
  hgvsp: ENST00000595090.1:c.735C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*652C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11103
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg242Ter
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

19-49513822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513822
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513822
    reference: chr 19
allele count: 4
allele frequency: 3.318841060701603e-5
allele num: 120524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.606C>T
  hgvsp: ENST00000413176.2:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.730C>T
  hgvsp: ENSP00000221413.6:p.Arg244Ter
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.606C>T
  hgvsp: ENST00000601968.1:c.606C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1150C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*658C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.741C>T
  hgvsp: ENST00000595090.1:c.741C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6895
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4210
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg244Ter
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

19-49513825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513825
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513825
    reference: chr 19
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1153C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*661C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.609C>T
  hgvsp: ENST00000413176.2:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.733C>T
  hgvsp: ENSP00000221413.6:p.Arg245Cys
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.609C>T
  hgvsp: ENST00000601968.1:c.609C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.744C>T
  hgvsp: ENST00000595090.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11090
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg245Cys
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-49513826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513826
    reference: chr 19
allele count: 5
allele frequency: 4.149239859257784e-5
allele num: 120504
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.745G>A
  hgvsp: ENSP00000473172.1:p.Val249Ile
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*662G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1154G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.610G>A
  hgvsp: ENSP00000413890.2:p.Val204Ile
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.734G>A
  hgvsp: ENSP00000221413.6:p.Arg245His
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.610G>A
  hgvsp: ENSP00000471524.1:p.Val204Ile
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12334
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4208
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Val249Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

19-49513839-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513839
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513839
    reference: chr 19
allele count: 4
allele frequency: 3.322038402763936e-5
allele num: 120408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*675G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.747G>A
  hgvsp: ENST00000221413.6:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1167G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.623G>A
  hgvsp: ENSP00000413890.2:p.Arg208His
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.623G>A
  hgvsp: ENSP00000471524.1:p.Arg208His
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.758G>A
  hgvsp: ENSP00000473172.1:p.Arg253His
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6886
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg253His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-49513840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513840
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513840
    reference: chr 19
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.624C>T
  hgvsp: ENST00000413176.2:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.624C>T
  hgvsp: ENST00000601968.1:c.624C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.748C>T
  hgvsp: ENSP00000221413.6:p.His250Tyr
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*676C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.759C>T
  hgvsp: ENST00000595090.1:c.759C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1168C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10799
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22868
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His250Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-49513856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513856
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513856
    reference: chr 19
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.640G>A
  hgvsp: ENSP00000413890.2:p.Ala214Thr
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1184G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*692G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.764G>A
  hgvsp: ENSP00000221413.6:p.Gly255Asp
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.775G>A
  hgvsp: ENSP00000473172.1:p.Ala259Thr
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.640G>A
  hgvsp: ENSP00000471524.1:p.Ala214Thr
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala259Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-49513857-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513857
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513857
    reference: chr 19
allele count: 3
allele frequency: 2.49617253544565e-5
allele num: 120184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.641C>T
  hgvsp: ENSP00000471524.1:p.Ala214Val
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*693C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.776C>T
  hgvsp: ENSP00000473172.1:p.Ala259Val
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.765C>T
  hgvsp: ENST00000221413.6:c.765C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1185C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.641C>T
  hgvsp: ENSP00000413890.2:p.Ala214Val
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala259Val
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

19-49513858-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513858
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513858
    reference: chr 19
allele count: 12
allele frequency: 9.988679496570554e-5
allele num: 120136
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.777G>A
  hgvsp: ENST00000595090.1:c.777G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.766G>A
  hgvsp: ENSP00000221413.6:p.Ala256Thr
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.642G>A
  hgvsp: ENST00000413176.2:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.642G>A
  hgvsp: ENST00000601968.1:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*694G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1186G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10956
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala256Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

19-49513873-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513873
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513873
    reference: chr 19
allele count: 1
allele frequency: 8.355056480181806e-6
allele num: 119688
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+5G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+5G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+5G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+5G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+5G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+5G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14817
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4699
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
hgvs: c.787+5G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-49513875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513875
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513875
    reference: chr 19
allele count: 1
allele frequency: 8.361483661660925e-6
allele num: 119596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+7C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+7C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+7C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+7C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+7C>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+7C>A
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4119
  bin: 7.25e1
  variant carriers: 0
hgvs: c.787+7C>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

19-49513879-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513879
    reference: chr 19
allele count: 3
allele frequency: 2.514036704935892e-5
allele num: 119330
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+11T>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+11T>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+11T>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+11T>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+11T>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+11T>G
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

19-49513879-T-TCCTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513884
    reference: chr 19
allele count: 58
allele frequency: 4.860470962876058e-4
allele num: 119330
alternate allele: TCCTGC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+34_*704+38dupTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+34_652+38dupTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+34_652+38dupTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+34_787+38dupTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+34_776+38dupTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+34_1196+38dupTGCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

19-49513879-T-TCCTGCCCTGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513889
    reference: chr 19
allele count: 5
allele frequency: 4.190061174893154e-5
allele num: 119330
alternate allele: TCCTGCCCTGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5591
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10412
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

19-49513879-TCCTGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513874
    reference: chr 19
allele count: 163
allele frequency: 1.365959943015168e-3
allele num: 119330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+34_652+38delTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+34_652+38delTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+34_*704+38delTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+34_1196+38delTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+34_776+38delTGCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+34_787+38delTGCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 1
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: TCCTGC
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

19-49513879-TCCTGCCCTGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513879
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513869
    reference: chr 19
allele count: 5
allele frequency: 4.190061174893154e-5
allele num: 119330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10558
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14491
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19263
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4087
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: TCCTGCCCTGC
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

19-49513897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513897
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513897
    reference: chr 19
allele count: 1
allele frequency: 8.462671157524161e-6
allele num: 118166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+29T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+29T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+29T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+29T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+29T>C
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+29T>C
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5647
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13256
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3042
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4041
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-49513899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513899
    reference: chr 19
allele count: 1
allele frequency: 8.47314014573801e-6
allele num: 118020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+31C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+31C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+31C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+31C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+31C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+31C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8522
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4922
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ

19-49513900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513900
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513900
    reference: chr 19
allele count: 1
allele frequency: 8.468547813420954e-6
allele num: 118084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+32C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+32C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+32C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+32C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+32C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+32C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3515
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

19-49513902-T-TGCCCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513902
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513907
    reference: chr 19
allele count: 2
allele frequency: 1.698513800424628e-5
allele num: 117750
alternate allele: TGCCCC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+35_*704+39dupGCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+35_652+39dupGCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+35_787+39dupGCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+35_652+39dupGCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+35_776+39dupGCCCC
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+35_1196+39dupGCCCC
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5599
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3615
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

19-49513905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513905
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513905
    reference: chr 19
allele count: 1
allele frequency: 8.494156020657787e-6
allele num: 117728
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+37C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+37C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+37C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+37C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+37C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+37C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1738
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21192
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

19-49513906-C-CTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513908
    reference: chr 19
allele count: 1
allele frequency: 8.50210001870462e-6
allele num: 117618
alternate allele: CTG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+38_652+39insTG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+38_*704+39insTG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+38_787+39insTG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+38_652+39insTG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+38_776+39insTG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+38_1196+39insTG
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-49513906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513906
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513906
    reference: chr 19
allele count: 1
allele frequency: 8.50210001870462e-6
allele num: 117618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+38C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20106
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-49513907-CAGG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513907
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513904
    reference: chr 19
allele count: 1
allele frequency: 8.518903446748335e-6
allele num: 117386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+40_787+42delAGG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+40_776+42delAGG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+40_652+42delAGG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+40_*704+42delAGG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+40_652+42delAGG
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+40_1196+42delAGG
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8295
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11955
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: CAGG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

19-49513911-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513911
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513911
    reference: chr 19
allele count: 1
allele frequency: 8.532860044029558e-6
allele num: 117194
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+43C>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+43C>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+43C>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+43C>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+43C>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+43C>G
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

19-49513917-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49513917
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49513917
    reference: chr 19
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.776+49A>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.787+49A>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.652+49A>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.652+49A>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1196+49A>G
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*704+49A>G
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9555
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3906
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-49514206-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49514206
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49514206
    reference: chr 19
allele count: 2
allele frequency: 2.662903096956302e-5
allele num: 75106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*705-50G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.788-50G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.653-50G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.777-50G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.653-50G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1197-50G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13107
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5411
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3953
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum

19-49514207-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49514207
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49514207
    reference: chr 19
allele count: 2
allele frequency: 2.660140455416046e-5
allele num: 75184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.653-49G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1197-49G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.788-49G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.777-49G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.653-49G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*705-49G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16881
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13126
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6724
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3977
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10976
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

19-49514212-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49514212
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49514212
    reference: chr 19
allele count: 2
allele frequency: 2.659291564727157e-5
allele num: 75208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1197-44C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*705-44C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.653-44C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.788-44C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.777-44C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.653-44C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5634
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16900
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8090
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3986
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9193
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3479
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2654
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

19-49514213-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49514213
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49514213
    reference: chr 19
allele count: 7
allele frequency: 9.283080921942551e-5
allele num: 75406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.653-43G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*705-43G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.777-43G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.653-43G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.788-43G>A
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1197-43G>A
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13046
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16983
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3096
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10672
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-49514218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 49514218
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 49514218
    reference: chr 19
allele count: 1
allele frequency: 1.306130978814556e-5
allele num: 76562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471538
  ensembl transcript: ENST00000596247
  gene symbol: RUVBL2
  hgvsc: ENST00000596247.1:c.*705-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000221413
  ensembl transcript: ENST00000221413
  gene symbol: RUVBL2
  hgvsc: ENST00000221413.6:c.777-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl transcript: ENST00000594338
  gene symbol: RUVBL2
  hgvsc: ENST00000594338.1:n.1197-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000473172
  ensembl transcript: ENST00000595090
  gene symbol: RUVBL2
  hgvsc: ENST00000595090.1:c.788-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000413890
  ensembl transcript: ENST00000413176
  gene symbol: RUVBL2
  hgvsc: ENST00000413176.2:c.653-38C>T
  variant of: http://identifiers.org/hgnc/10475
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000183207
  ensembl protein: ENSP00000471524
  ensembl transcript: ENST00000601968
  gene symbol: RUVBL2
  hgvsc: ENST00000601968.1:c.653-38C>T
  variant of: http://identifiers.org/hgnc/10475
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3787
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16875
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8865
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13679
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2832
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514508996183437e-5
allele num: 66028
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

QD
type: SiteQuality
SIO_000300: 1.412e1

FS
type: SiteQuality
SIO_000300: 4.27e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 2.544271e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13681
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3623
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5022
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.201165819174004e-5
allele num: 16126
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

DP
type: SiteQuality
SIO_000300: 2.54895e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.376e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.888e0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1795
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13679
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.16e0

DP
type: SiteQuality
SIO_000300: 2.549868e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13684
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2835
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.239003840911907e-4
allele num: 16142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.031778786628147e-4
allele num: 9692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.856e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.552429e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 816
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2694
bin: 9.25e1
variant carriers: 4

GenotypeQuality
all individuals: 3812
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 2

East Asian
type: Population
allele count: 238
allele frequency: 2.775186567164179e-2
allele num: 8576
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 4705
allele frequency: 7.118433793270394e-2
allele num: 66096
num of homozygotes: 168

African
type: Population
allele count: 208
allele frequency: 2.144772117962467e-2
allele num: 9698
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 506
allele frequency: 7.655068078668684e-2
allele num: 6610
num of homozygotes: 24

Latino
type: Population
allele count: 380
allele frequency: 3.291183093712108e-2
allele num: 11546
num of homozygotes: 9

Other
type: Population
allele count: 56
allele frequency: 6.306306306306306e-2
allele num: 888
num of homozygotes: 1

South Asian
type: Population
allele count: 399
allele frequency: 2.470894228387416e-2
allele num: 16148
num of homozygotes: 7

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.412e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

DP
type: SiteQuality
SIO_000300: 2.690878e6

GenotypeQuality
all individuals: 52
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4943
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 2.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.412e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.11e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

DP
type: SiteQuality
SIO_000300: 2.690878e6

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4287
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9967
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3989
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 2.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511761504505049e-5
allele num: 66148
num of homozygotes: 0

African
type: Population
allele count: 13
allele frequency: 1.339653751030503e-3
allele num: 9704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.174364040503828e-5
allele num: 16196
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

QD
type: SiteQuality
SIO_000300: 1.411e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

FS
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.35e-1

DP
type: SiteQuality
SIO_000300: 2.478953e6

GenotypeQuality
all individuals: 417
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3992
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10003
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1938
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5578
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.820721769499418e-4
allele num: 8590
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.467308166790032e-4
allele num: 16212
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.072763563781528e-5
allele num: 66132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.480563e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

GenotypeQuality
all individuals: 355
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9744
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 10008
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1939
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.558807522525247e-5
allele num: 66148
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

QD
type: SiteQuality
SIO_000300: 1.369e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

DP
type: SiteQuality
SIO_000300: 2.480695e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 4293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9739
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511715797430083e-5
allele num: 66150
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.918e-1

DP
type: SiteQuality
SIO_000300: 2.481134e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: -6.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
SIO_000300: 1.34e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.574e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.029442042413012e-4
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.209848164055411e-4
allele num: 66124
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQ
type: SiteQuality
SIO_000300: 5.208e1

QD
type: SiteQuality
SIO_000300: 7.26e0

MQRankSum
type: SiteQuality
SIO_000300: -1.125e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 1.48242e2

VQSLOD
type: SiteQuality
SIO_000300: -1.77e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 2.488385e6

GenotypeQuality
all individuals: 4277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.073861230415583e-5
allele num: 66124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 1.48242e2

MQ
type: SiteQuality
SIO_000300: 5.208e1

DP
type: SiteQuality
SIO_000300: 2.488385e6

QD
type: SiteQuality
SIO_000300: 7.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -1.125e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.77e1

GenotypeQuality
all individuals: 307
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512310205069264e-5
allele num: 66124
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.125e0

MQ
type: SiteQuality
SIO_000300: 5.208e1

FS
type: SiteQuality
SIO_000300: 1.48242e2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

VQSLOD
type: SiteQuality
SIO_000300: -1.77e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 2.488385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 7.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10020
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1928
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512310205069264e-5
allele num: 66124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.77e1

MQ
type: SiteQuality
SIO_000300: 5.208e1

MQRankSum
type: SiteQuality
SIO_000300: -1.125e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

FS
type: SiteQuality
SIO_000300: 1.48242e2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 2.488385e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e0

QD
type: SiteQuality
SIO_000300: 7.26e0

GenotypeQuality
all individuals: 19457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2976
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9620
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.049240820277055e-5
allele num: 66124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16248
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.77e1

FS
type: SiteQuality
SIO_000300: 1.48242e2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.125e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.208e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

DP
type: SiteQuality
SIO_000300: 2.488385e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e0

QD
type: SiteQuality
SIO_000300: 7.26e0

GenotypeQuality
all individuals: 461
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1543
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8796
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.834391165572146e-5
allele num: 54514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.53638e2

QD
type: SiteQuality
SIO_000300: 9.69e0

MQ
type: SiteQuality
SIO_000300: 5.346e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e0

DP
type: SiteQuality
SIO_000300: 2.720498e6

GenotypeQuality
all individuals: 2513
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2241
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3320
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8796
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15874
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.834391165572146e-5
allele num: 54514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e0

FS
type: SiteQuality
SIO_000300: 1.53638e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 2.720498e6

MQ
type: SiteQuality
SIO_000300: 5.346e1

QD
type: SiteQuality
SIO_000300: 9.69e0

GenotypeQuality
all individuals: 767
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 3320
bin: 8.25e1
variant carriers: 13

GenotypeQuality
all individuals: 8796
bin: 9.75e1
variant carriers: 1805

GenotypeQuality
all individuals: 130
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 4

GenotypeQuality
all individuals: 17596
bin: 6.25e1
variant carriers: 8

GenotypeQuality
all individuals: 3416
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2241
bin: 9.25e1
variant carriers: 5

Other
type: Population
allele count: 9
allele frequency: 1.100244498777506e-2
allele num: 818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 36
allele frequency: 5.646173149309913e-3
allele num: 6376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1688
allele frequency: 3.096452287485783e-2
allele num: 54514
num of homozygotes: 0

South Asian
type: Population
allele count: 61
allele frequency: 3.842761748771576e-3
allele num: 15874
num of homozygotes: 0

Latino
type: Population
allele count: 28
allele frequency: 2.475685234305924e-3
allele num: 11310
num of homozygotes: 0

East Asian
type: Population
allele count: 60
allele frequency: 7.151370679380214e-3
allele num: 8390
num of homozygotes: 0

African
type: Population
allele count: 35
allele frequency: 3.679562657695542e-3
allele num: 9512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.983e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQ
type: SiteQuality
SIO_000300: 5.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.53638e2

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e0

DP
type: SiteQuality
SIO_000300: 2.720498e6

GenotypeQuality
all individuals: 1799
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2850
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3820
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.090871625798475e-4
allele num: 9706
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: 66134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.461e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.797e1

DP
type: SiteQuality
SIO_000300: 2.888532e6

GenotypeQuality
all individuals: 18342
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3665
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

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

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

African
type: Population
allele count: 25
allele frequency: 2.573075339645945e-3
allele num: 9716
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

QD
type: SiteQuality
SIO_000300: 1.65e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.428e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 2.891877e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 2.178e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 9421
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4982
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9718
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 3.361e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 2.890904e6

VQSLOD
type: SiteQuality
SIO_000300: -9.281e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.142e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

GenotypeQuality
all individuals: 3288
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 344
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4355
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.536098310291859e-4
allele num: 6510
num of homozygotes: 0

South Asian
type: Population
allele count: 13
allele frequency: 8.682874699438952e-4
allele num: 14972
num of homozygotes: 0

East Asian
type: Population
allele count: 16
allele frequency: 1.897083234526915e-3
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.05748290706508e-4
allele num: 63184
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.77430801987225e-4
allele num: 11272
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.82e-2

FS
type: SiteQuality
SIO_000300: 1.67972e2

VQSLOD
type: SiteQuality
SIO_000300: -1.35e2

DP
type: SiteQuality
SIO_000300: 2.869488e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.939e0

MQ
type: SiteQuality
SIO_000300: 5.582e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.276e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e0

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

GenotypeQuality
all individuals: 13008
bin: 9.75e1
variant carriers: 7752

GenotypeQuality
all individuals: 463
bin: 4.25e1
variant carriers: 16

GenotypeQuality
all individuals: 485
bin: 4.75e1
variant carriers: 29

GenotypeQuality
all individuals: 3288
bin: 7.25e1
variant carriers: 25

GenotypeQuality
all individuals: 1443
bin: 8.75e1
variant carriers: 16

GenotypeQuality
all individuals: 517
bin: 5.25e1
variant carriers: 30

GenotypeQuality
all individuals: 344
bin: 1.75e1
variant carriers: 34

GenotypeQuality
all individuals: 4355
bin: 7.75e1
variant carriers: 28

European (Non-Finnish)
type: Population
allele count: 7222
allele frequency: 1.143010888832616e-1
allele num: 63184
num of homozygotes: 0

South Asian
type: Population
allele count: 120
allele frequency: 8.014961261020572e-3
allele num: 14972
num of homozygotes: 0

African
type: Population
allele count: 196
allele frequency: 2.089997867349115e-2
allele num: 9378
num of homozygotes: 0

Other
type: Population
allele count: 41
allele frequency: 4.834905660377359e-2
allele num: 848
num of homozygotes: 0

Latino
type: Population
allele count: 232
allele frequency: 2.05819730305181e-2
allele num: 11272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 178
allele frequency: 2.734254992319508e-2
allele num: 6510
num of homozygotes: 0

East Asian
type: Population
allele count: 150
allele frequency: 1.778515532368983e-2
allele num: 8434
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.276e0

DP
type: SiteQuality
SIO_000300: 2.869488e6

MQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.35e2

FS
type: SiteQuality
SIO_000300: 1.67972e2

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.939e0

MQ
type: SiteQuality
SIO_000300: 5.582e1

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19897
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2424
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.027326895418122e-4
allele num: 9734
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.126e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 4.294e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.079e0

DP
type: SiteQuality
SIO_000300: 2.871646e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1632
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4956
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9832
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507204437209863e-5
allele num: 66348
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 4.294e0

DP
type: SiteQuality
SIO_000300: 2.871646e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.916e1

QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.079e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9845
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3673
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12741
bin: 9.75e1
variant carriers: 1141

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 13
allele frequency: 1.335250616269515e-3
allele num: 9736
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21758188238159e-4
allele num: 16426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1067
allele frequency: 1.607896323086197e-2
allele num: 66360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 28
allele frequency: 4.233444209253099e-3
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 21
allele frequency: 2.440725244072524e-3
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 8.948545861297539e-3
allele num: 894
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e0

MQ
type: SiteQuality
SIO_000300: 5.393e1

FS
type: SiteQuality
SIO_000300: 1.40578e2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.231e1

MQRankSum
type: SiteQuality
SIO_000300: -1.591e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.537e0

DP
type: SiteQuality
SIO_000300: 2.898125e6

GenotypeQuality
all individuals: 354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5373
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1549
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9561
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 1.75e1
variant carriers: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.776549060909251e-5
allele num: 11394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.792360102758852e-4
allele num: 53718
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.177109440267335e-4
allele num: 9576
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.396313e6

VQSLOD
type: SiteQuality
SIO_000300: -4.922e0

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.708e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.99e-2

FS
type: SiteQuality
SIO_000300: 2.8816e1

MQ
type: SiteQuality
SIO_000300: 5.903e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.525e0

QD
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2771
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6621
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56035451254525e-5
allele num: 64088
num of homozygotes: 0

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

African
type: Population
allele count: 34
allele frequency: 3.505154639175258e-3
allele num: 9700
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.89e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

FS
type: SiteQuality
SIO_000300: 1.271e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

DP
type: SiteQuality
SIO_000300: 2.139988e6

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11058
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505525277769414e-5
allele num: 66422
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.581e1

FS
type: SiteQuality
SIO_000300: 4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.189718e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5728
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.426301103967002e-4
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.527173094872489e-5
allele num: 66426
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.1249e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

DP
type: SiteQuality
SIO_000300: 2.190781e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

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

GenotypeQuality
all individuals: 1896
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11068
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6916
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 5728
bin: 7.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 1.1249e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 2.190781e6

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11071
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6908
bin: 9.75e1
variant carriers: 3

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.594706798131811e-4
allele num: 11562
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.190518e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 4.277e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -2.743e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.964e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

QD
type: SiteQuality
SIO_000300: 2.631e1

GenotypeQuality
all individuals: 5733
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23078
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2877
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6906
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4215
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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: 9774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.887e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e-1

QD
type: SiteQuality
SIO_000300: 1.108e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.421e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

DP
type: SiteQuality
SIO_000300: 2.193559e6

MQ
type: SiteQuality
SIO_000300: 5.882e1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1898
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6905
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4248
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.886e1

FS
type: SiteQuality
SIO_000300: 7.394e0

DP
type: SiteQuality
SIO_000300: 2.194105e6

QD
type: SiteQuality
SIO_000300: 1.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.063e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.0e-2

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5729
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6904
bin: 9.75e1
variant carriers: 2

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005259203606311e-5
allele num: 66550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.265e0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 2.194722e6

QD
type: SiteQuality
SIO_000300: 1.194e1

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 11108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6904
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5729
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.194e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.265e0

DP
type: SiteQuality
SIO_000300: 2.194722e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.196e0

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

GenotypeQuality
all individuals: 2878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5729
bin: 7.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004988280545706e-5
allele num: 66556
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
SIO_000300: 2.504e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

DP
type: SiteQuality
SIO_000300: 2.194421e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1

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

GenotypeQuality
all individuals: 198
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23117
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4251
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004988280545706e-5
allele num: 66556
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

DP
type: SiteQuality
SIO_000300: 2.194663e6

FS
type: SiteQuality
SIO_000300: 1.787e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

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

GenotypeQuality
all individuals: 138
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6899
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.194176e6

FS
type: SiteQuality
SIO_000300: 9.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.907e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.228e0

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.116e0

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 1.6e-2

GenotypeQuality
all individuals: 203
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11102
bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502494140272853e-5
allele num: 66556
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.49e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e0

FS
type: SiteQuality
SIO_000300: 2.641e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 2.19433e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4215
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11101
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 7.5e0
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50253929140247e-5
allele num: 66554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.565e1

VQSLOD
type: SiteQuality
SIO_000300: -2.589e0

FS
type: SiteQuality
SIO_000300: 1.1557e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

QD
type: SiteQuality
SIO_000300: 1.167e1

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.194262e6

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

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 6896
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.194074e6

FS
type: SiteQuality
SIO_000300: 1.326e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.775e0

QD
type: SiteQuality
SIO_000300: 1.202e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

GenotypeQuality
all individuals: 2878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5730
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6895
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1897
bin: 8.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.484e0

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.865e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.177e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

DP
type: SiteQuality
SIO_000300: 2.193828e6

QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
all individuals: 23075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5728
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 6.01304831484321e-5
allele num: 66522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.193489e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.79e1

FS
type: SiteQuality
SIO_000300: 3.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.173e1

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.193022e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.76e0

FS
type: SiteQuality
SIO_000300: 1.888e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.397e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

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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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.644681839294008e-4
allele num: 8612
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 2.193249e6

QD
type: SiteQuality
SIO_000300: 1.309e1

VQSLOD
type: SiteQuality
SIO_000300: 9.419999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.666e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
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bin: 3.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.02101333654454e-5
allele num: 66434
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 6612
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

DP
type: SiteQuality
SIO_000300: 2.190479e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.254e0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
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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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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
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: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.331e0

FS
type: SiteQuality
SIO_000300: 7.156e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 2.190088e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.467e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

MQ
type: SiteQuality
SIO_000300: 5.905e1

QD
type: SiteQuality
SIO_000300: 8.66e0

GenotypeQuality
all individuals: 681
bin: 2.25e1
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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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 4190
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507749834147518e-5
allele num: 66324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.18311e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 6.25e1
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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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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016955288722621e-5
allele num: 66292
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.857e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

DP
type: SiteQuality
SIO_000300: 2.18247e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
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SIO_000300: 2.01e0

FS
type: SiteQuality
SIO_000300: 3.961e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

QD
type: SiteQuality
SIO_000300: 1.238e1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5696
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.544664413326895e-5
allele num: 66272
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.430724355858046e-4
allele num: 16456
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.916e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 3.824e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.923e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.18086e6

QD
type: SiteQuality
SIO_000300: 1.216e1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1685
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variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.026694045174538e-4
allele num: 9740
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-1

FS
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.155605e6

QD
type: SiteQuality
SIO_000300: 1.109e1

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51666818333485e-5
allele num: 65934
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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allele num: 8588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.66e0

FS
type: SiteQuality
SIO_000300: 1.878e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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SIO_000300: -5.211e0

VQSLOD
type: SiteQuality
SIO_000300: -5.610000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.872e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4186
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GenotypeQuality
all individuals: 10412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6957
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 2.063557573256294e-4
allele num: 9692
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65776
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.505e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.841e0

DP
type: SiteQuality
SIO_000300: 2.132924e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.024e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
all individuals: 4186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6957
bin: 9.75e1
variant carriers: 60

GenotypeQuality
all individuals: 4087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.603262755987504e-4
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.888591583556312e-4
allele num: 65776
num of homozygotes: 0

East Asian
type: Population
allele count: 30
allele frequency: 3.500583430571762e-3
allele num: 8570
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.063557573256294e-4
allele num: 9692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.033980582524272e-4
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.227445685528415e-4
allele num: 16294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.841e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQ
type: SiteQuality
SIO_000300: 5.505e1

DP
type: SiteQuality
SIO_000300: 2.132924e6

QD
type: SiteQuality
SIO_000300: 1.024e1

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6957
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4087
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 3.75e1
variant carriers: 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: 9692
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.560934079299441e-5
allele num: 65776
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.505e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.841e0

QD
type: SiteQuality
SIO_000300: 1.024e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

DP
type: SiteQuality
SIO_000300: 2.132924e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6957
bin: 9.75e1
variant carriers: 164

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10412
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 11
allele frequency: 9.545296771954183e-4
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.227445685528415e-4
allele num: 16294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.040622719532961e-4
allele num: 65776
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

African
type: Population
allele count: 128
allele frequency: 1.320676846884028e-2
allele num: 9692
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.166861143523921e-4
allele num: 8570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.841e0

MQ
type: SiteQuality
SIO_000300: 5.505e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

QD
type: SiteQuality
SIO_000300: 1.024e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 2.132924e6

GenotypeQuality
all individuals: 1848
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4186
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6957
bin: 9.75e1
variant carriers: 5

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.560934079299441e-5
allele num: 65776
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.024e1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

DP
type: SiteQuality
SIO_000300: 2.132924e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.841e0

MQ
type: SiteQuality
SIO_000300: 5.505e1

GenotypeQuality
all individuals: 751
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4923
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 253
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9135
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64994
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.206554121151936e-5
allele num: 16112
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.812e0

DP
type: SiteQuality
SIO_000300: 1.971441e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.363e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 250
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3040
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23307
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.044495508669313e-4
allele num: 9574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.511e0

VQSLOD
type: SiteQuality
SIO_000300: -1.414e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.293e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

DP
type: SiteQuality
SIO_000300: 1.96299e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 3164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4919
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3043
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4235
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538650910881339e-5
allele num: 64992
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.804e1

MQRankSum
type: SiteQuality
SIO_000300: -9.08e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.492e1

DP
type: SiteQuality
SIO_000300: 1.958767e6

GenotypeQuality
all individuals: 137
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1258
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4905
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3115
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9046
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4355
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.101281781886951e-4
allele num: 9518
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64824
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: 15976
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.543e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 9.523e0

DP
type: SiteQuality
SIO_000300: 1.951019e6

MQ
type: SiteQuality
SIO_000300: 5.55e1

QD
type: SiteQuality
SIO_000300: 8.59e0

GenotypeQuality
all individuals: 431
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4895
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1914
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4151
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543591010125957e-5
allele num: 64784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.551e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.51e-1

QD
type: SiteQuality
SIO_000300: 2.163e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: -2.109e0

FS
type: SiteQuality
SIO_000300: 2.019e0

DP
type: SiteQuality
SIO_000300: 1.93325e6

GenotypeQuality
all individuals: 20106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1870
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4890
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1917
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.545117428924598e-5
allele num: 64720
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.923107e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 2.477e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-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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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.545117428924598e-5
allele num: 64720
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.923107e6

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
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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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8472
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.547700117625209e-5
allele num: 64612
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.912822e6

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 9510
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.550051151688006e-5
allele num: 64514
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.422e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.261e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.897871e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.7e0

GenotypeQuality
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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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

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

South Asian
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allele frequency: 6.36213258684311e-5
allele num: 15718
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64142
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9442
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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
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
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SIO_000300: 1.874278e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44814
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 6642
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.938558487593541e-4
allele num: 5078
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.977e0

DP
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.22e-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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 6646
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 3420
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.229654403567447e-5
allele num: 44850
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3258
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South Asian
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allele frequency: 8.805917576611483e-5
allele num: 11356
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 554
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East Asian
type: Population
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allele num: 5086
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Latino
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 3.059975520195838e-4
allele num: 3268
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South Asian
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allele frequency: 8.818342151675486e-5
allele num: 11340
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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DP
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

African
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Latino
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allele frequency: 8.761682242990654e-4
allele num: 3424
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Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.441483455474128e-5
allele num: 45030
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 3.90015600624025e-4
allele num: 5128
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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BaseQRankSum
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DP
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FS
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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