8-53568838-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568838
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568838
    reference: chr 8
allele count: 3
allele frequency: 2.482292976765738e-5
allele num: 120856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30668A>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3551A>C
  hgvsp: ENSP00000025008.5:p.Asp1184Ala
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3551A>C
  hgvsp: ENSP00000445960.1:p.Asp1184Ala
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3551A>C
  hgvsp: ENSP00000396067.2:p.Asp1184Ala
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4973
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp1184Ala
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/8-53568839-CCAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568839
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568836
    reference: chr 8
allele count: 3
allele frequency: 2.480979159775058e-5
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30664_385+30666delTTG
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3547_3549delTTG
  hgvsp: ENSP00000396067.2:p.Leu1183del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3547_3549delTTG
  hgvsp: ENSP00000445960.1:p.Leu1183del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3547_3549delTTG
  hgvsp: ENSP00000025008.5:p.Leu1183del
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1183del
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: CCAA
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

8-53568843-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568843
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568843
    reference: chr 8
allele count: 5
allele frequency: 4.138113682259079e-5
allele num: 120828
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3546A>T
  hgvsp: ENSP00000025008.5:p.Lys1182Asn
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3546A>T
  hgvsp: ENSP00000396067.2:p.Lys1182Asn
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30663A>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3546A>T
  hgvsp: ENSP00000445960.1:p.Lys1182Asn
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1182Asn
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

8-53568845-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568845
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568845
    reference: chr 8
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3544A>T
  hgvsp: ENSP00000445960.1:p.Lys1182Ter
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3544A>T
  hgvsp: ENSP00000396067.2:p.Lys1182Ter
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30661A>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3544A>T
  hgvsp: ENSP00000025008.5:p.Lys1182Ter
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1182Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

8-53568859-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568859
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568859
    reference: chr 8
allele count: 3
allele frequency: 2.487974788522143e-5
allele num: 120580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3530T>C
  hgvsp: ENSP00000396067.2:p.Ile1177Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3530T>C
  hgvsp: ENSP00000445960.1:p.Ile1177Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30647T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3530T>C
  hgvsp: ENSP00000025008.5:p.Ile1177Thr
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48421
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4957
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ile1177Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

8-53568876-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568876
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568876
    reference: chr 8
allele count: 4
allele frequency: 3.327565553041395e-5
allele num: 120208
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3513C>A
  hgvsp: ENSP00000445960.1:p.Asn1171Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3513C>A
  hgvsp: ENSP00000396067.2:p.Asn1171Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3513C>A
  hgvsp: ENSP00000025008.5:p.Asn1171Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30630C>A
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1171Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

8-53568876-GTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568876
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568874
    reference: chr 8
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3511_3512delAA
  hgvsp: ENSP00000445960.1:p.Asn1171ProfsTer7
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3511_3512delAA
  hgvsp: ENSP00000025008.5:p.Asn1171ProfsTer7
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3511_3512delAA
  hgvsp: ENSP00000396067.2:p.Asn1171ProfsTer7
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30628_385+30629delAA
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn1171ProfsTer7
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: GTT
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

8-53568893-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568893
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568893
    reference: chr 8
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30613T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3496T>C
  hgvsp: ENSP00000025008.5:p.Phe1166Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3496T>C
  hgvsp: ENSP00000445960.1:p.Phe1166Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3496T>C
  hgvsp: ENSP00000396067.2:p.Phe1166Leu
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42605
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43609
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 778
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Phe1166Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS

8-53568900-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568900
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568900
    reference: chr 8
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30606C>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3489C>T
  hgvsp: ENST00000025008.5:c.3489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3489C>T
  hgvsp: ENST00000539297.1:c.3489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3489C>T
  hgvsp: ENST00000435644.2:c.3489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asn1163Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

8-53568900-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568900
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568900
    reference: chr 8
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3489C>A
  hgvsp: ENSP00000025008.5:p.Asn1163Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30606C>A
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3489C>A
  hgvsp: ENSP00000396067.2:p.Asn1163Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3489C>A
  hgvsp: ENSP00000445960.1:p.Asn1163Lys
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44396
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn1163Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

8-53568903-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568903
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568903
    reference: chr 8
allele count: 5
allele frequency: 4.173344017094017e-5
allele num: 119808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30603T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3486T>C
  hgvsp: ENST00000435644.2:c.3486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3486T>C
  hgvsp: ENST00000025008.5:c.3486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3486T>C
  hgvsp: ENST00000539297.1:c.3486T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42519
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44250
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.75e1
  variant carriers: 0
hgvs: p.His1162His
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

8-53568905-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568905
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568905
    reference: chr 8
allele count: 7
allele frequency: 5.845120994004576e-5
allele num: 119758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3484C>T
  hgvsp: ENSP00000025008.5:p.His1162Tyr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3484C>T
  hgvsp: ENSP00000396067.2:p.His1162Tyr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30601C>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3484C>T
  hgvsp: ENSP00000445960.1:p.His1162Tyr
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42432
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His1162Tyr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

8-53568912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568912
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568912
    reference: chr 8
allele count: 1
allele frequency: 8.351986102295126e-6
allele num: 119732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3477A>G
  hgvsp: ENST00000435644.2:c.3477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3477A>G
  hgvsp: ENST00000539297.1:c.3477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3477A>G
  hgvsp: ENST00000025008.5:c.3477A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30594A>G
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42045
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr1159Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

8-53568917-CTTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568917
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568913
    reference: chr 8
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30585_385+30588delCAAA
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3468_3471delCAAA
  hgvsp: ENSP00000025008.5:p.Asn1156LysfsTer2
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3468_3471delCAAA
  hgvsp: ENSP00000396067.2:p.Asn1156LysfsTer2
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3468_3471delCAAA
  hgvsp: ENSP00000445960.1:p.Asn1156LysfsTer2
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4842
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn1156LysfsTer2
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: CTTTG
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

8-53568918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568918
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568918
    reference: chr 8
allele count: 1
allele frequency: 8.35421888053467e-6
allele num: 119700
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3471A>G
  hgvsp: ENST00000025008.5:c.3471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3471A>G
  hgvsp: ENST00000435644.2:c.3471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3471A>G
  hgvsp: ENST00000539297.1:c.3471A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30588A>G
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4854
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys1157Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

8-53568925-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568925
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568925
    reference: chr 8
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30581T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3464T>C
  hgvsp: ENSP00000025008.5:p.Leu1155Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3464T>C
  hgvsp: ENSP00000396067.2:p.Leu1155Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3464T>C
  hgvsp: ENSP00000445960.1:p.Leu1155Ser
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1155Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

8-53568931-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568931
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568931
    reference: chr 8
allele count: 5
allele frequency: 4.18025248725023e-5
allele num: 119610
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3458C>G
  hgvsp: ENSP00000025008.5:p.Ala1153Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30575C>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3458C>G
  hgvsp: ENSP00000396067.2:p.Ala1153Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3458C>G
  hgvsp: ENSP00000445960.1:p.Ala1153Gly
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1153Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/8-53568932-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568932
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568932
    reference: chr 8
allele count: 3
allele frequency: 2.508528998595224e-5
allele num: 119592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3457G>T
  hgvsp: ENSP00000445960.1:p.Ala1153Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3457G>T
  hgvsp: ENSP00000396067.2:p.Ala1153Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30574G>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3457G>T
  hgvsp: ENSP00000025008.5:p.Ala1153Ser
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41825
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1153Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

8-53568940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568940
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568940
    reference: chr 8
allele count: 4
allele frequency: 3.343363423604146e-5
allele num: 119640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30566T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3449T>C
  hgvsp: ENSP00000396067.2:p.Ile1150Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3449T>C
  hgvsp: ENSP00000445960.1:p.Ile1150Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3449T>C
  hgvsp: ENSP00000025008.5:p.Ile1150Thr
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile1150Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

8-53568944-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568944
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568944
    reference: chr 8
allele count: 4
allele frequency: 3.343978331020415e-5
allele num: 119618
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3445A>C
  hgvsp: ENSP00000445960.1:p.Asn1149His
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3445A>C
  hgvsp: ENSP00000025008.5:p.Asn1149His
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3445A>C
  hgvsp: ENSP00000396067.2:p.Asn1149His
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30562A>C
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn1149His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

8-53568946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568946
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568946
    reference: chr 8
allele count: 1
allele frequency: 8.357709987463435e-6
allele num: 119650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3443C>T
  hgvsp: ENSP00000396067.2:p.Ser1148Phe
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30560C>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3443C>T
  hgvsp: ENSP00000445960.1:p.Ser1148Phe
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3443C>T
  hgvsp: ENSP00000025008.5:p.Ser1148Phe
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser1148Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-53568957-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568957
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568957
    reference: chr 8
allele count: 3
allele frequency: 2.507145364288222e-5
allele num: 119658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3432T>C
  hgvsp: ENST00000435644.2:c.3432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30549T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3432T>C
  hgvsp: ENST00000025008.5:c.3432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3432T>C
  hgvsp: ENST00000539297.1:c.3432T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His1144His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

8-53568975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568975
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568975
    reference: chr 8
allele count: 2
allele frequency: 1.672017121455324e-5
allele num: 119616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30531C>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3414C>T
  hgvsp: ENST00000435644.2:c.3414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3414C>T
  hgvsp: ENST00000025008.5:c.3414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3414C>T
  hgvsp: ENST00000539297.1:c.3414C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10419
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser1138Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/8-53568984-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568984
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568984
    reference: chr 8
allele count: 6
allele frequency: 5.016722408026756e-5
allele num: 119600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3405G>T
  hgvsp: ENSP00000445960.1:p.Gln1135His
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30522G>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3405G>T
  hgvsp: ENSP00000396067.2:p.Gln1135His
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3405G>T
  hgvsp: ENSP00000025008.5:p.Gln1135His
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln1135His
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

8-53568984-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568984
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568984
    reference: chr 8
allele count: 2
allele frequency: 1.672240802675585e-5
allele num: 119600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3405G>A
  hgvsp: ENST00000435644.2:c.3405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3405G>A
  hgvsp: ENST00000025008.5:c.3405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30522G>A
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3405G>A
  hgvsp: ENST00000539297.1:c.3405G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln1135Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

8-53568994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53568994
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53568994
    reference: chr 8
allele count: 1
allele frequency: 8.365120792344242e-6
allele num: 119544
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3395A>G
  hgvsp: ENSP00000025008.5:p.Glu1132Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3395A>G
  hgvsp: ENSP00000396067.2:p.Glu1132Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3395A>G
  hgvsp: ENSP00000445960.1:p.Glu1132Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30512A>G
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1132Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

8-53569022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569022
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569022
    reference: chr 8
allele count: 1
allele frequency: 8.39433214693439e-6
allele num: 119128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3367G>A
  hgvsp: ENSP00000396067.2:p.Ala1123Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3367G>A
  hgvsp: ENSP00000445960.1:p.Ala1123Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3367G>A
  hgvsp: ENSP00000025008.5:p.Ala1123Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30484G>A
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42021
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1123Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

8-53569025-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569025
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569025
    reference: chr 8
allele count: 1
allele frequency: 8.393768466290626e-6
allele num: 119136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30481T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3364T>C
  hgvsp: ENST00000025008.5:c.3364T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3364T>C
  hgvsp: ENST00000539297.1:c.3364T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3364T>C
  hgvsp: ENST00000435644.2:c.3364T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38908
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42202
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 5284
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 341
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1122Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-53569035-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569035
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569035
    reference: chr 8
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3354T>C
  hgvsp: ENST00000435644.2:c.3354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3354T>C
  hgvsp: ENST00000025008.5:c.3354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3354T>C
  hgvsp: ENST00000539297.1:c.3354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30471T>C
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10962
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5328
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr1118Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

8-53569046-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569046
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569046
    reference: chr 8
allele count: 1
allele frequency: 8.405904307185366e-6
allele num: 118964
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3343A>T
  hgvsp: ENSP00000396067.2:p.Asn1115Tyr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30460A>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3343A>T
  hgvsp: ENSP00000025008.5:p.Asn1115Tyr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3343A>T
  hgvsp: ENSP00000445960.1:p.Asn1115Tyr
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41100
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1115Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

8-53569051-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569051
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569051
    reference: chr 8
allele count: 3
allele frequency: 2.521813688404701e-5
allele num: 118962
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3338A>G
  hgvsp: ENSP00000025008.5:p.Asp1113Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3338A>G
  hgvsp: ENSP00000396067.2:p.Asp1113Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30455A>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3338A>G
  hgvsp: ENSP00000445960.1:p.Asp1113Gly
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5400
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp1113Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ

8-53569070-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569070
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569070
    reference: chr 8
allele count: 1
allele frequency: 8.405056481979558e-6
allele num: 118976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3319C>A
  hgvsp: ENSP00000396067.2:p.Leu1107Ile
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30436C>A
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3319C>A
  hgvsp: ENSP00000445960.1:p.Leu1107Ile
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3319C>A
  hgvsp: ENSP00000025008.5:p.Leu1107Ile
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 473
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1107Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-53569077-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569077
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569077
    reference: chr 8
allele count: 1
allele frequency: 8.397010664203544e-6
allele num: 119090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30429T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3312T>C
  hgvsp: ENST00000539297.1:c.3312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3312T>C
  hgvsp: ENST00000025008.5:c.3312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3312T>C
  hgvsp: ENST00000435644.2:c.3312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1742
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile1104Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

8-53569082-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569082
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569082
    reference: chr 8
allele count: 12
allele frequency: 1.006947940791461e-4
allele num: 119172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3307G>A
  hgvsp: ENSP00000445960.1:p.Glu1103Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3307G>A
  hgvsp: ENSP00000025008.5:p.Glu1103Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30424G>A
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3307G>A
  hgvsp: ENSP00000396067.2:p.Glu1103Lys
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38974
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu1103Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-53569104-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569104
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569104
    reference: chr 8
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3285A>G
  hgvsp: ENST00000435644.2:c.3285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3285A>G
  hgvsp: ENST00000025008.5:c.3285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30402A>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3285A>G
  hgvsp: ENST00000539297.1:c.3285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln1095Gln
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

8-53569105-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569105
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569105
    reference: chr 8
allele count: 1
allele frequency: 8.365400702693659e-6
allele num: 119540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3284A>G
  hgvsp: ENSP00000445960.1:p.Gln1095Arg
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30401A>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3284A>G
  hgvsp: ENSP00000025008.5:p.Gln1095Arg
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3284A>G
  hgvsp: ENSP00000396067.2:p.Gln1095Arg
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln1095Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

8-53569109-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569109
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569109
    reference: chr 8
allele count: 2
allele frequency: 1.672408602869853e-5
allele num: 119588
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3280G>C
  hgvsp: ENSP00000025008.5:p.Glu1094Gln
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3280G>C
  hgvsp: ENSP00000445960.1:p.Glu1094Gln
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3280G>C
  hgvsp: ENSP00000396067.2:p.Glu1094Gln
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30397G>C
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu1094Gln
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

8-53569109-CAAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569109
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569106
    reference: chr 8
allele count: 1
allele frequency: 8.362043014349267e-6
allele num: 119588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3277_3279delCTT
  hgvsp: ENSP00000445960.1:p.Leu1093del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30394_385+30396delCTT
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3277_3279delCTT
  hgvsp: ENSP00000396067.2:p.Leu1093del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3277_3279delCTT
  hgvsp: ENSP00000025008.5:p.Leu1093del
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu1093del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: CAAG
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD

8-53569125-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569125
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569125
    reference: chr 8
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30381C>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3264C>T
  hgvsp: ENST00000435644.2:c.3264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3264C>T
  hgvsp: ENST00000539297.1:c.3264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3264C>T
  hgvsp: ENST00000025008.5:c.3264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6097
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr1088Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

8-53569125-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569125
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569125
    reference: chr 8
allele count: 1
allele frequency: 8.343206127250579e-6
allele num: 119858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30381C>A
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3264C>A
  hgvsp: ENST00000539297.1:c.3264C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3264C>A
  hgvsp: ENST00000025008.5:c.3264C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3264C>A
  hgvsp: ENST00000435644.2:c.3264C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1088Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-53569129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569129
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569129
    reference: chr 8
allele count: 1
allele frequency: 8.338892595063375e-6
allele num: 119920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30377A>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3260A>G
  hgvsp: ENSP00000396067.2:p.Glu1087Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3260A>G
  hgvsp: ENSP00000445960.1:p.Glu1087Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3260A>G
  hgvsp: ENSP00000025008.5:p.Glu1087Gly
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45052
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu1087Gly
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

8-53569130-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569130
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569127
    reference: chr 8
allele count: 4
allele frequency: 3.33555703802535e-5
allele num: 119920
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3256_3258delAAG
  hgvsp: ENSP00000025008.5:p.Lys1086del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3256_3258delAAG
  hgvsp: ENSP00000445960.1:p.Lys1086del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3256_3258delAAG
  hgvsp: ENSP00000396067.2:p.Lys1086del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30373_385+30375delAAG
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1086del
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: CCTT
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-53569141-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569141
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569141
    reference: chr 8
allele count: 2
allele frequency: 1.666666666666667e-5
allele num: 120000
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3248C>T
  hgvsp: ENSP00000025008.5:p.Ala1083Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3248C>T
  hgvsp: ENSP00000396067.2:p.Ala1083Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3248C>T
  hgvsp: ENSP00000445960.1:p.Ala1083Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30365C>T
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4077
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1083Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

8-53569162-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569162
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569162
    reference: chr 8
allele count: 1
allele frequency: 8.31255195344971e-6
allele num: 120300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3227T>C
  hgvsp: ENSP00000445960.1:p.Ile1076Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3227T>C
  hgvsp: ENSP00000396067.2:p.Ile1076Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30344T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3227T>C
  hgvsp: ENSP00000025008.5:p.Ile1076Thr
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45702
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile1076Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

8-53569163-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569163
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569163
    reference: chr 8
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30343A>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3226A>C
  hgvsp: ENSP00000445960.1:p.Ile1076Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3226A>C
  hgvsp: ENSP00000396067.2:p.Ile1076Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3226A>C
  hgvsp: ENSP00000025008.5:p.Ile1076Leu
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45717
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile1076Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

8-53569176-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569176
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569176
    reference: chr 8
allele count: 2
allele frequency: 1.66008167601846e-5
allele num: 120476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30330T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3213T>C
  hgvsp: ENST00000025008.5:c.3213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3213T>C
  hgvsp: ENST00000539297.1:c.3213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3213T>C
  hgvsp: ENST00000435644.2:c.3213T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1071Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

8-53569177-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569177
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569177
    reference: chr 8
allele count: 2
allele frequency: 1.659943893896386e-5
allele num: 120486
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3212C>G
  hgvsp: ENSP00000025008.5:p.Thr1071Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30329C>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3212C>G
  hgvsp: ENSP00000396067.2:p.Thr1071Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3212C>G
  hgvsp: ENSP00000445960.1:p.Thr1071Ser
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1071Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

8-53569178-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569178
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569178
    reference: chr 8
allele count: 2
allele frequency: 1.659585767392459e-5
allele num: 120512
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3211A>T
  hgvsp: ENSP00000445960.1:p.Thr1071Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3211A>T
  hgvsp: ENSP00000025008.5:p.Thr1071Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3211A>T
  hgvsp: ENSP00000396067.2:p.Thr1071Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30328A>T
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr1071Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

8-53569194-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569194
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569194
    reference: chr 8
allele count: 1158
allele frequency: 9.59562479284057e-3
allele num: 120680
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3195G>A
  hgvsp: ENST00000539297.1:c.3195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3195G>A
  hgvsp: ENST00000025008.5:c.3195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30312G>A
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3195G>A
  hgvsp: ENST00000435644.2:c.3195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 13815
  bin: 2.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 38825
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 3.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 332
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 9.75e1
  variant carriers: 1100
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45456
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6266
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1065Ala
num of homozygotes: 53
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

8-53569195-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569195
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569195
    reference: chr 8
allele count: 2
allele frequency: 1.657412778652524e-5
allele num: 120670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3194C>G
  hgvsp: ENSP00000396067.2:p.Ala1065Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3194C>G
  hgvsp: ENSP00000025008.5:p.Ala1065Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30311C>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3194C>G
  hgvsp: ENSP00000445960.1:p.Ala1065Gly
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1905
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1065Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-53569197-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569197
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569197
    reference: chr 8
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3192T>G
  hgvsp: ENST00000539297.1:c.3192T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3192T>G
  hgvsp: ENST00000435644.2:c.3192T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3192T>G
  hgvsp: ENST00000025008.5:c.3192T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30309T>G
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45769
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu1064Leu
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

8-53569204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569204
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569204
    reference: chr 8
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3185T>C
  hgvsp: ENSP00000025008.5:p.Val1062Ala
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3185T>C
  hgvsp: ENSP00000396067.2:p.Val1062Ala
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30302T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3185T>C
  hgvsp: ENSP00000445960.1:p.Val1062Ala
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45782
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1062Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

8-53569206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569206
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569206
    reference: chr 8
allele count: 2
allele frequency: 1.656781205474005e-5
allele num: 120716
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3183G>A
  hgvsp: ENST00000539297.1:c.3183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3183G>A
  hgvsp: ENST00000025008.5:c.3183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3183G>A
  hgvsp: ENST00000435644.2:c.3183G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30300G>A
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu1061Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

8-53569209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569209
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569209
    reference: chr 8
allele count: 2
allele frequency: 1.656698861847882e-5
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3180A>G
  hgvsp: ENST00000025008.5:c.3180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30297A>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3180A>G
  hgvsp: ENST00000539297.1:c.3180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3180A>G
  hgvsp: ENST00000435644.2:c.3180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu1060Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/8-53569212-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569212
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569212
    reference: chr 8
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3177G>T
  hgvsp: ENSP00000445960.1:p.Lys1059Asn
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3177G>T
  hgvsp: ENSP00000025008.5:p.Lys1059Asn
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3177G>T
  hgvsp: ENSP00000396067.2:p.Lys1059Asn
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30294G>T
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1059Asn
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

8-53569213-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569213
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569213
    reference: chr 8
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3176A>G
  hgvsp: ENSP00000025008.5:p.Lys1059Arg
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30293A>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3176A>G
  hgvsp: ENSP00000445960.1:p.Lys1059Arg
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3176A>G
  hgvsp: ENSP00000396067.2:p.Lys1059Arg
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1059Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

8-53569221-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569221
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569221
    reference: chr 8
allele count: 2
allele frequency: 1.656891009709381e-5
allele num: 120708
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3168G>A
  hgvsp: ENST00000025008.5:c.3168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3168G>A
  hgvsp: ENST00000435644.2:c.3168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3168G>A
  hgvsp: ENST00000539297.1:c.3168G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30285G>A
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1056Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

8-53569222-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569222
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569222
    reference: chr 8
allele count: 8
allele frequency: 6.62855248985003e-5
allele num: 120690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3167C>T
  hgvsp: ENSP00000396067.2:p.Thr1056Met
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3167C>T
  hgvsp: ENSP00000445960.1:p.Thr1056Met
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3167C>T
  hgvsp: ENSP00000025008.5:p.Thr1056Met
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30284C>T
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45704
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr1056Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

8-53569226-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569226
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569226
    reference: chr 8
allele count: 91
allele frequency: 7.54010340713244e-4
allele num: 120688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3163G>A
  hgvsp: ENSP00000396067.2:p.Asp1055Asn
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3163G>A
  hgvsp: ENSP00000445960.1:p.Asp1055Asn
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30280G>A
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3163G>A
  hgvsp: ENSP00000025008.5:p.Asp1055Asn
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 9.75e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 45608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6374
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp1055Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/8-53569229-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569229
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569229
    reference: chr 8
allele count: 2
allele frequency: 1.657330372236402e-5
allele num: 120676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30277T>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3160T>G
  hgvsp: ENSP00000025008.5:p.Ser1054Ala
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3160T>G
  hgvsp: ENSP00000396067.2:p.Ser1054Ala
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3160T>G
  hgvsp: ENSP00000445960.1:p.Ser1054Ala
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45604
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser1054Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD

8-53569234-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569234
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569234
    reference: chr 8
allele count: 1
allele frequency: 8.288025460814215e-6
allele num: 120656
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3155A>G
  hgvsp: ENSP00000025008.5:p.Asp1052Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3155A>G
  hgvsp: ENSP00000445960.1:p.Asp1052Gly
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30272A>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3155A>G
  hgvsp: ENSP00000396067.2:p.Asp1052Gly
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp1052Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

8-53569256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569256
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569256
    reference: chr 8
allele count: 22
allele frequency: 1.82569583907321e-4
allele num: 120502
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3133G>A
  hgvsp: ENSP00000445960.1:p.Glu1045Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3133G>A
  hgvsp: ENSP00000396067.2:p.Glu1045Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3133G>A
  hgvsp: ENSP00000025008.5:p.Glu1045Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30250G>A
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6370
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45383
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1045Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

8-53569259-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569259
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569259
    reference: chr 8
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3130C>A
  hgvsp: ENSP00000396067.2:p.Gln1044Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3130C>A
  hgvsp: ENSP00000025008.5:p.Gln1044Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3130C>A
  hgvsp: ENSP00000445960.1:p.Gln1044Lys
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30247C>A
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6376
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln1044Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/8-53569262-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569262
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569262
    reference: chr 8
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3127T>G
  hgvsp: ENSP00000396067.2:p.Leu1043Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3127T>G
  hgvsp: ENSP00000445960.1:p.Leu1043Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3127T>G
  hgvsp: ENSP00000025008.5:p.Leu1043Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30244T>G
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu1043Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

8-53569264-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569264
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569264
    reference: chr 8
allele count: 1
allele frequency: 8.303440945927993e-6
allele num: 120432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3125A>T
  hgvsp: ENSP00000025008.5:p.Gln1042Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3125A>T
  hgvsp: ENSP00000445960.1:p.Gln1042Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30242A>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3125A>T
  hgvsp: ENSP00000396067.2:p.Gln1042Leu
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln1042Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

8-53569269-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569269
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569269
    reference: chr 8
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3120A>G
  hgvsp: ENST00000435644.2:c.3120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3120A>G
  hgvsp: ENST00000539297.1:c.3120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3120A>G
  hgvsp: ENST00000025008.5:c.3120A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30237A>G
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1040Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

8-53569278-CTGGATAATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569278
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569269
    reference: chr 8
allele count: 1
allele frequency: 8.302751531857658e-6
allele num: 120442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsp: ENSP00000445960.1:p.Ile1035_Gln1037del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsp: ENSP00000396067.2:p.Ile1035_Gln1037del
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsp: ENSP00000025008.5:p.Ile1035_Gln1037del
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1984
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6375
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile1035_Gln1037del
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: CTGGATAATT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

8-53569282-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569282
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569282
    reference: chr 8
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3107T>C
  hgvsp: ENSP00000396067.2:p.Ile1036Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3107T>C
  hgvsp: ENSP00000025008.5:p.Ile1036Thr
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30224T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3107T>C
  hgvsp: ENSP00000445960.1:p.Ile1036Thr
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45434
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile1036Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

8-53569283-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569283
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569283
    reference: chr 8
allele count: 1
allele frequency: 8.301097405076952e-6
allele num: 120466
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3106A>G
  hgvsp: ENSP00000445960.1:p.Ile1036Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3106A>G
  hgvsp: ENSP00000396067.2:p.Ile1036Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3106A>G
  hgvsp: ENSP00000025008.5:p.Ile1036Val
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30223A>G
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6384
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile1036Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

8-53569294-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569294
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569294
    reference: chr 8
allele count: 3
allele frequency: 2.488428806051859e-5
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3095A>T
  hgvsp: ENSP00000445960.1:p.His1032Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3095A>T
  hgvsp: ENSP00000025008.5:p.His1032Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30212A>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3095A>T
  hgvsp: ENSP00000396067.2:p.His1032Leu
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38647
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 305
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 437
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genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His1032Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

8-53569294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569294
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569294
    reference: chr 8
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3095A>G
  hgvsp: ENSP00000025008.5:p.His1032Arg
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3095A>G
  hgvsp: ENSP00000396067.2:p.His1032Arg
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30212A>G
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3095A>G
  hgvsp: ENSP00000445960.1:p.His1032Arg
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 102
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 446
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2072
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genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1132
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 1982
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His1032Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-53569312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569312
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569312
    reference: chr 8
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3077A>G
  hgvsp: ENSP00000025008.5:p.Asn1026Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3077A>G
  hgvsp: ENSP00000396067.2:p.Asn1026Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3077A>G
  hgvsp: ENSP00000445960.1:p.Asn1026Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30194A>G
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 102
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
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genotype depth: GenotypeDepth
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6393
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 439
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1134
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45702
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn1026Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

8-53569321-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569321
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569321
    reference: chr 8
allele count: 19
allele frequency: 1.573603220089116e-4
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30185A>T
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3068A>T
  hgvsp: ENSP00000025008.5:p.Gln1023Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3068A>T
  hgvsp: ENSP00000396067.2:p.Gln1023Leu
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3068A>T
  hgvsp: ENSP00000445960.1:p.Gln1023Leu
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38748
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2084
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6393
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln1023Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

8-53569348-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569348
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569348
    reference: chr 8
allele count: 2
allele frequency: 1.651391297167864e-5
allele num: 121110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30158T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3041T>C
  hgvsp: ENSP00000025008.5:p.Leu1014Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3041T>C
  hgvsp: ENSP00000445960.1:p.Leu1014Ser
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3041T>C
  hgvsp: ENSP00000396067.2:p.Leu1014Ser
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6406
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu1014Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

8-53569350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 53569350
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 53569350
    reference: chr 8
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000023287
  ensembl transcript: ENST00000521611
  gene symbol: RB1CC1
  hgvsc: ENST00000521611.1:n.385+30156T>C
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000396067
  ensembl transcript: ENST00000435644
  gene symbol: RB1CC1
  hgvsc: ENST00000435644.2:c.3039T>C
  hgvsp: ENST00000435644.2:c.3039T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000445960
  ensembl transcript: ENST00000539297
  gene symbol: RB1CC1
  hgvsc: ENST00000539297.1:c.3039T>C
  hgvsp: ENST00000539297.1:c.3039T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000023287
  ensembl protein: ENSP00000025008
  ensembl transcript: ENST00000025008
  gene symbol: RB1CC1
  hgvsc: ENST00000025008.5:c.3039T>C
  hgvsp: ENST00000025008.5:c.3039T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15574
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2073
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1013Ser
num of homozygotes: 0
reference allele: A

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

GenotypeQuality
all individuals: 49177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007157033740302e-5
allele num: 66508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -6.035e0

FS
type: SiteQuality
SIO_000300: 2.1779e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

MQ
type: SiteQuality
SIO_000300: 4.281e1

DP
type: SiteQuality
SIO_000300: 1.448089e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.355e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 3.78e0

GenotypeQuality
all individuals: 1695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 794
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00543984612148e-5
allele num: 66546
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 5.5554e1

QD
type: SiteQuality
SIO_000300: 1.93e0

VQSLOD
type: SiteQuality
SIO_000300: -5.873e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

MQ
type: SiteQuality
SIO_000300: 4.11e1

MQRankSum
type: SiteQuality
SIO_000300: -1.449e0

DP
type: SiteQuality
SIO_000300: 1.447985e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.449e0

GenotypeQuality
all individuals: 1687
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1353
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.865706500583885e-4
allele num: 10276
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
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: 6592
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: 66478
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.203e0

QD
type: SiteQuality
SIO_000300: 1.391e1

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

DP
type: SiteQuality
SIO_000300: 1.447221e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

GenotypeQuality
all individuals: 49068
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4980
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.102e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.985e0

DP
type: SiteQuality
SIO_000300: 1.445671e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.496e0

QD
type: SiteQuality
SIO_000300: 5.18e0

FS
type: SiteQuality
SIO_000300: 1.1738e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.667e0

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-4
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.951981260979895e-4
allele num: 10246
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: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

DP
type: SiteQuality
SIO_000300: 1.439473e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

QD
type: SiteQuality
SIO_000300: 1.482e1

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46664
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 3.917727717923604e-4
allele num: 10210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 1.207e0

DP
type: SiteQuality
SIO_000300: 1.429982e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

GenotypeQuality
all individuals: 4828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513271390091099e-5
allele num: 66082
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
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: 8518
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.429982e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.207e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 1361
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
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: 8468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65906
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.298e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 1.421366e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.578e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 2.235e0

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
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: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.212e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

FS
type: SiteQuality
SIO_000300: 6.025e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

VQSLOD
type: SiteQuality
SIO_000300: -1.674e-1

DP
type: SiteQuality
SIO_000300: 1.420453e6

GenotypeQuality
all individuals: 450
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.756567425569177e-5
allele num: 11420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8456
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: 16472
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.945e0

FS
type: SiteQuality
SIO_000300: 6.025e0

QD
type: SiteQuality
SIO_000300: 1.212e1

DP
type: SiteQuality
SIO_000300: 1.420453e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -1.674e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

GenotypeQuality
all individuals: 1692
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1380
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
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: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.591169951112865e-5
allele num: 65866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 1.420179e6

FS
type: SiteQuality
SIO_000300: 2.219e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

QD
type: SiteQuality
SIO_000300: 1.64e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 9.75e1
variant carriers: 7

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

African
type: Population
allele count: 7
allele frequency: 6.912897491605768e-4
allele num: 10126
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.222e0

VQSLOD
type: SiteQuality
SIO_000300: 2.47e0

FS
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 1.420906e6

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.41e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4837
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519156564275514e-5
allele num: 65826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.719e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

MQRankSum
type: SiteQuality
SIO_000300: -1.244e0

DP
type: SiteQuality
SIO_000300: 1.419229e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.455e1

VQSLOD
type: SiteQuality
SIO_000300: -9.353e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519295047098146e-5
allele num: 65820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQ
type: SiteQuality
SIO_000300: 5.661e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -1.038e0

FS
type: SiteQuality
SIO_000300: 9.853e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.04e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
SIO_000300: 1.421486e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519295047098146e-5
allele num: 65820
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.075e0

DP
type: SiteQuality
SIO_000300: 1.42101e6

QD
type: SiteQuality
SIO_000300: 1.708e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.524e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

DP
type: SiteQuality
SIO_000300: 1.423299e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.552e0

VQSLOD
type: SiteQuality
SIO_000300: -8.867e-1

QD
type: SiteQuality
SIO_000300: 1.486e1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44246
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.598553235463967e-5
allele num: 65802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.425217e6

MQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.985e0

FS
type: SiteQuality
SIO_000300: 3.279e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44178
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.773469029654326e-5
allele num: 11398
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03988326848249e-5
allele num: 65792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

MQ
type: SiteQuality
SIO_000300: 5.88e1

FS
type: SiteQuality
SIO_000300: 6.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

DP
type: SiteQuality
SIO_000300: 1.425875e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.991e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.257e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4959
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.988831272437176e-4
allele num: 10028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.092e0

MQRankSum
type: SiteQuality
SIO_000300: -6.55e-1

QD
type: SiteQuality
SIO_000300: 1.339e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.428977e6

GenotypeQuality
all individuals: 801
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.4330900243309e-4
allele num: 16440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.11e-1

FS
type: SiteQuality
SIO_000300: 2.101e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e0

DP
type: SiteQuality
SIO_000300: 1.430028e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

QD
type: SiteQuality
SIO_000300: 1.613e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518602885345482e-5
allele num: 65850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10024
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.431723e6

QD
type: SiteQuality
SIO_000300: 1.152e1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 9.869e0

VQSLOD
type: SiteQuality
SIO_000300: -5.696e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.806e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44599
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.555255246135625e-5
allele num: 65858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.316e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.6633e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

DP
type: SiteQuality
SIO_000300: 1.435758e6

QD
type: SiteQuality
SIO_000300: 1.283e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.447e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518741267237713e-5
allele num: 65844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.99e-1

FS
type: SiteQuality
SIO_000300: 5.958e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

DP
type: SiteQuality
SIO_000300: 1.441224e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.21e-1

GenotypeQuality
all individuals: 324
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
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variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
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: 6
allele frequency: 9.114385538508278e-5
allele num: 65830
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 1.441856e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.476e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.232e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.984e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
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bin: 6.75e1
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: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
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)
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allele count: 2
allele frequency: 3.038128512836093e-5
allele num: 65830
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.984e0

DP
type: SiteQuality
SIO_000300: 1.441856e6

QD
type: SiteQuality
SIO_000300: 1.232e1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.69e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.076810889645114e-5
allele num: 16456
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 1.440408e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.827e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.921e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-5
allele num: 65600
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

QD
type: SiteQuality
SIO_000300: 1.527e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.74e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.431786e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.317e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524343770007012e-5
allele num: 65602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.430497e6

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.798e0

QD
type: SiteQuality
SIO_000300: 1.522e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
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East Asian
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allele frequency: 1.187648456057007e-4
allele num: 8420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

QD
type: SiteQuality
SIO_000300: 1.508e1

VQSLOD
type: SiteQuality
SIO_000300: -1.012e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 3.523e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 1.428554e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1711
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 658
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5353
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.72e-1

DP
type: SiteQuality
SIO_000300: 1.427961e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.87e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 40684
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1032
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.636203866432338e-4
allele num: 11380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65474
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.428326e6

MQRankSum
type: SiteQuality
SIO_000300: 6.73e-1

QD
type: SiteQuality
SIO_000300: 1.596e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5636
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9878
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

QD
type: SiteQuality
SIO_000300: 1.026e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 5.392e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 1.443538e6

VQSLOD
type: SiteQuality
SIO_000300: -4.878e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.068e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 794
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65548
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: 6548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.01e0

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

FS
type: SiteQuality
SIO_000300: 1.017e0

DP
type: SiteQuality
SIO_000300: 1.450509e6

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.59e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

GenotypeQuality
all individuals: 1759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 12
allele frequency: 7.309051041539773e-4
allele num: 16418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.504e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 2.451e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

DP
type: SiteQuality
SIO_000300: 1.456033e6

QD
type: SiteQuality
SIO_000300: 1.187e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

GenotypeQuality
all individuals: 1867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.087909411907951e-5
allele num: 16426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65722
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.124e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.669e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 1.472092e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 44587
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
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: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521051350693599e-5
allele num: 65744
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 3.435e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.15e-1

QD
type: SiteQuality
SIO_000300: 1.423e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

DP
type: SiteQuality
SIO_000300: 1.472887e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 1868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6002
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.985702938840349e-4
allele num: 10072
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.79e1

QD
type: SiteQuality
SIO_000300: 1.187e1

FS
type: SiteQuality
SIO_000300: 4.301e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.476548e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6002
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16426
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520450053215752e-5
allele num: 65770
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.187e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.476548e6

FS
type: SiteQuality
SIO_000300: 4.301e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1827
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
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: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.461e0

DP
type: SiteQuality
SIO_000300: 1.484006e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.25e1
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GenotypeQuality
all individuals: 380
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.846396218983852e-5
allele num: 10156
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 65886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

DP
type: SiteQuality
SIO_000300: 1.484006e6

MQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.461e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

GenotypeQuality
all individuals: 183
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 384
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
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: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65902
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.073858114674441e-5
allele num: 16464
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.858e1

VQSLOD
type: SiteQuality
SIO_000300: -1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.891e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 1.48553e6

FS
type: SiteQuality
SIO_000300: 3.432e0

MQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.213e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

QD
type: SiteQuality
SIO_000300: 1.277e1

GenotypeQuality
all individuals: 45067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 178
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1837
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.828975820719482e-5
allele num: 10174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.552352048558422e-5
allele num: 65900
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.752e1

DP
type: SiteQuality
SIO_000300: 1.486235e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

QD
type: SiteQuality
SIO_000300: 1.585e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e-1

FS
type: SiteQuality
SIO_000300: 1.143e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
all individuals: 183
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1931
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65924
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.811616954474098e-5
allele num: 10192
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.363e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.991e0

QD
type: SiteQuality
SIO_000300: 1.375e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.490923e6

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

GenotypeQuality
all individuals: 1094
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6310
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66078
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

DP
type: SiteQuality
SIO_000300: 1.497892e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.246e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 5.87e-1

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66076
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.498179e6

FS
type: SiteQuality
SIO_000300: 2.055e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e0

QD
type: SiteQuality
SIO_000300: 1.197e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.84e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

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

GenotypeQuality
all individuals: 6350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1877
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511076188461422e-5
allele num: 66178
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 1.2292e1

MQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.13e-1

DP
type: SiteQuality
SIO_000300: 1.501585e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

QD
type: SiteQuality
SIO_000300: 1.147e1

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

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6347
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.951981260979895e-4
allele num: 10246
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66176
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

FS
type: SiteQuality
SIO_000300: 7.345e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.32e-1

QD
type: SiteQuality
SIO_000300: 1.999e1

MQRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.501924e6

GenotypeQuality
all individuals: 397
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.951219512195122e-4
allele num: 10250
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.207e0

VQSLOD
type: SiteQuality
SIO_000300: -1.473e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.22e-1

DP
type: SiteQuality
SIO_000300: 1.502069e6

QD
type: SiteQuality
SIO_000300: 1.999e1

FS
type: SiteQuality
SIO_000300: 8.507e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

GenotypeQuality
all individuals: 1075
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 1

Latino
type: Population
allele count: 47
allele frequency: 4.077029840388619e-3
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 1086
allele frequency: 1.056625802685347e-1
allele num: 10278
num of homozygotes: 53

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.508750754375377e-4
allele num: 66280
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.424778761061947e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.637245392822503e-4
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.816658911121452e-4
allele num: 8596
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.66e0

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

QD
type: SiteQuality
SIO_000300: 1.288e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.46e-2

DP
type: SiteQuality
SIO_000300: 1.55901e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 1985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508887346470713e-5
allele num: 66274
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.51875e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 1.0466e1

QD
type: SiteQuality
SIO_000300: 1.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.505e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.465e0

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508432135638218e-5
allele num: 66294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 4.973e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.518601e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 9.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.681e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 1.518846e6

QD
type: SiteQuality
SIO_000300: 1.025e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
all individuals: 1131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1987
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1908
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.948937828883259e-4
allele num: 10262
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.351e0

FS
type: SiteQuality
SIO_000300: 1.75e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.518746e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10262
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.212268153715602e-4
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66310
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.288e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.518968e6

VQSLOD
type: SiteQuality
SIO_000300: 5.600000000000001e-1

GenotypeQuality
all individuals: 38
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2038
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66326
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.759906304899473e-5
allele num: 10246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-1

DP
type: SiteQuality
SIO_000300: 1.518531e6

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeQuality
all individuals: 6385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66328
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

FS
type: SiteQuality
SIO_000300: 5.232e0

VQSLOD
type: SiteQuality
SIO_000300: -1.233e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.866e0

DP
type: SiteQuality
SIO_000300: 1.518549e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45707
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.015408738654524e-5
allele num: 66326
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.209e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

DP
type: SiteQuality
SIO_000300: 1.518326e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

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

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 9.75e1
variant carriers: 8

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.636363636363636e-4
allele num: 16500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 4.113e0

DP
type: SiteQuality
SIO_000300: 1.518725e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1977
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1127
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66338
num of homozygotes: 0

South Asian
type: Population
allele count: 90
allele frequency: 5.453884377651194e-3
allele num: 16502
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.148e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.14e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.277e0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

DP
type: SiteQuality
SIO_000300: 1.523959e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

GenotypeQuality
all individuals: 44
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212121212121212e-4
allele num: 16500
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 2.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.51908e6

QD
type: SiteQuality
SIO_000300: 1.402e1

GenotypeQuality
all individuals: 45578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 435
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507477086348288e-5
allele num: 66336
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: 10140
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: 904
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.13e-1

DP
type: SiteQuality
SIO_000300: 1.518547e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1129
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.712886209495102e-4
allele num: 66350
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.599653379549393e-4
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.001401962747847e-4
allele num: 9986
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.299e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.652e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 2.454e0

DP
type: SiteQuality
SIO_000300: 1.518359e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45361
bin: 6.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66360
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

FS
type: SiteQuality
SIO_000300: 5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.517201e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.38e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.287e1

GenotypeQuality
all individuals: 45370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1983
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
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: 902
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 2.137e0

DP
type: SiteQuality
SIO_000300: 1.517165e6

QD
type: SiteQuality
SIO_000300: 9.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.5e-1

GenotypeQuality
all individuals: 1917
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6382
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
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: 1
allele frequency: 1.009896990506968e-4
allele num: 9902
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: 902
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.597e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.517051e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.768e0

QD
type: SiteQuality
SIO_000300: 1.958e1

GenotypeQuality
all individuals: 45315
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6380
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.408e1

VQSLOD
type: SiteQuality
SIO_000300: -3.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 8.869e0

DP
type: SiteQuality
SIO_000300: 1.516828e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e0

GenotypeQuality
all individuals: 2069
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45341
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66364
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.408e0

VQSLOD
type: SiteQuality
SIO_000300: -5.758e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 5.591e1

FS
type: SiteQuality
SIO_000300: 1.251e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 8.3e-1

DP
type: SiteQuality
SIO_000300: 1.517039e6

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1132
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9886
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.61e1

FS
type: SiteQuality
SIO_000300: 1.385e0

VQSLOD
type: SiteQuality
SIO_000300: -1.008e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 1.517799e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

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

GenotypeQuality
all individuals: 2068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45446
bin: 6.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

FS
type: SiteQuality
SIO_000300: 1.951e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.22e0

DP
type: SiteQuality
SIO_000300: 1.517889e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.409e1

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 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: 902
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 1.781e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

DP
type: SiteQuality
SIO_000300: 1.519752e6

GenotypeQuality
all individuals: 1918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6387
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 1.781e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.81e0

DP
type: SiteQuality
SIO_000300: 1.519752e6

VQSLOD
type: SiteQuality
SIO_000300: 9.55e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1985
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503759398496241e-5
allele num: 66500
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: 8624
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.75e0

FS
type: SiteQuality
SIO_000300: 1.0332e1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: -2.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e0

DP
type: SiteQuality
SIO_000300: 1.521166e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e0

QD
type: SiteQuality
SIO_000300: 1.696e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 1922
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
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: 17
allele frequency: 1.029803731524109e-3
allele num: 16508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 2.652e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.507e0

DP
type: SiteQuality
SIO_000300: 1.523523e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 1987
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45955
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
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: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.62e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 1.525726e6

VQSLOD
type: SiteQuality
SIO_000300: -6.298e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0