11-27114778-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114778
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114778
    reference: chr 11
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45919T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26569T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.398A>G
  hgvsp: ENSP00000434918.1:p.Tyr133Cys
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26569T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.398A>G
  hgvsp: ENSP00000433772.1:p.Tyr133Cys
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.398A>G
  hgvsp: ENSP00000263182.3:p.Tyr133Cys
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22221A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.398A>G
  hgvsp: ENSP00000435781.1:p.Tyr133Cys
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18194
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2009
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Tyr133Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

11-27114779-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114779
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114779
    reference: chr 11
allele count: 59
allele frequency: 4.881923643404439e-4
allele num: 120854
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.399T>C
  hgvsp: ENST00000529202.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.399T>C
  hgvsp: ENST00000528583.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26570A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45920A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.399T>C
  hgvsp: ENST00000525090.1:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.399T>C
  hgvsp: ENST00000263182.3:c.399T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26570A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22220T>C
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 7335
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr133Tyr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

11-27114779-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114779
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114779
    reference: chr 11
allele count: 1
allele frequency: 8.274446853227862e-6
allele num: 120854
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.399T>G
  hgvsp: ENSP00000263182.3:p.Tyr133Ter
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.399T>G
  hgvsp: ENSP00000433772.1:p.Tyr133Ter
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26570A>C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.399T>G
  hgvsp: ENSP00000435781.1:p.Tyr133Ter
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26570A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22220T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.399T>G
  hgvsp: ENSP00000434918.1:p.Tyr133Ter
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45920A>C
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7335
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30320
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr133Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

11-27114782-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114782
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114782
    reference: chr 11
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.402T>C
  hgvsp: ENST00000528583.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22217T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26573A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.402T>C
  hgvsp: ENST00000525090.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45923A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.402T>C
  hgvsp: ENST00000529202.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26573A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.402T>C
  hgvsp: ENST00000263182.3:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp134Asp
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-27114783-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114783
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114783
    reference: chr 11
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.403G>T
  hgvsp: ENSP00000433772.1:p.Glu135Ter
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22216G>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.403G>T
  hgvsp: ENSP00000263182.3:p.Glu135Ter
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26574C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26574C>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.403G>T
  hgvsp: ENSP00000435781.1:p.Glu135Ter
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45924C>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.403G>T
  hgvsp: ENSP00000434918.1:p.Glu135Ter
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu135Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

11-27114788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114788
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114788
    reference: chr 11
allele count: 28501
allele frequency: 2.357402812241522e-1
allele num: 120900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.408C>T
  hgvsp: ENST00000529202.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.408C>T
  hgvsp: ENST00000263182.3:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22211C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45929G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.408C>T
  hgvsp: ENST00000525090.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.408C>T
  hgvsp: ENST00000528583.1:c.408C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26579G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26579G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 6.75e1
  variant carriers: 1582
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 2.75e1
  variant carriers: 146
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 9.75e1
  variant carriers: 8591
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 522
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 6.25e1
  variant carriers: 1449
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 3.75e1
  variant carriers: 313
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 5.75e1
  variant carriers: 1277
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 2.25e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 5576
  bin: 3.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 7.25e1
  variant carriers: 1655
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.75e1
  variant carriers: 765
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 8.75e1
  variant carriers: 1688
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 5.25e1
  variant carriers: 1048
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.75e1
  variant carriers: 1741
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 8.25e1
  variant carriers: 1646
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 9.25e1
  variant carriers: 1466
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 8.25e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 26903
  bin: 9.75e1
  variant carriers: 24110
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 5
hgvs: p.His136His
num of homozygotes: 4251
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

11-27114789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114789
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114789
    reference: chr 11
allele count: 2
allele frequency: 1.653958750268768e-5
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45930C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26580C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.409G>A
  hgvsp: ENSP00000433772.1:p.Ala137Thr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.409G>A
  hgvsp: ENSP00000263182.3:p.Ala137Thr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26580C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22210G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.409G>A
  hgvsp: ENSP00000435781.1:p.Ala137Thr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.409G>A
  hgvsp: ENSP00000434918.1:p.Ala137Thr
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala137Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

11-27114792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114792
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114792
    reference: chr 11
allele count: 1
allele frequency: 8.26801600687899e-6
allele num: 120948
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26583A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26583A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45933A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22207T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.412T>C
  hgvsp: ENSP00000435781.1:p.Tyr138His
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.412T>C
  hgvsp: ENSP00000434918.1:p.Tyr138His
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.412T>C
  hgvsp: ENSP00000263182.3:p.Tyr138His
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.412T>C
  hgvsp: ENSP00000433772.1:p.Tyr138His
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr138His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

11-27114804-TCCACC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114804
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114799
    reference: chr 11
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.426_430delCACCC
  hgvsp: ENSP00000263182.3:p.Thr143GlnfsTer13
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.426_430delCACCC
  hgvsp: ENSP00000434918.1:p.Thr143GlnfsTer13
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.426_430delCACCC
  hgvsp: ENSP00000433772.1:p.Thr143GlnfsTer13
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.426_430delCACCC
  hgvsp: ENSP00000435781.1:p.Thr143GlnfsTer13
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr143GlnfsTer13
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TCCACC
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

11-27114808-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114808
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114808
    reference: chr 11
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.428C>T
  hgvsp: ENSP00000434918.1:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26599G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.428C>T
  hgvsp: ENSP00000263182.3:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.428C>T
  hgvsp: ENSP00000435781.1:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.428C>T
  hgvsp: ENSP00000433772.1:p.Thr143Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22191C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45949G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26599G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32976
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr143Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD

11-27114819-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114819
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114819
    reference: chr 11
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26610C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45960C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22180G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.439G>A
  hgvsp: ENSP00000435781.1:p.Val147Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.439G>A
  hgvsp: ENSP00000433772.1:p.Val147Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.439G>A
  hgvsp: ENSP00000434918.1:p.Val147Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.439G>A
  hgvsp: ENSP00000263182.3:p.Val147Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26610C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1571
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val147Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

11-27114828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114828
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114828
    reference: chr 11
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.448G>A
  hgvsp: ENSP00000263182.3:p.Val150Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.448G>A
  hgvsp: ENSP00000435781.1:p.Val150Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26619C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45969C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.448G>A
  hgvsp: ENSP00000433772.1:p.Val150Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26619C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.448G>A
  hgvsp: ENSP00000434918.1:p.Val150Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22171G>A
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32994
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val150Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

11-27114839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114839
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114839
    reference: chr 11
allele count: 12
allele frequency: 9.924080782017565e-5
allele num: 120918
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45980G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26630G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.459C>T
  hgvsp: ENST00000263182.3:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22160C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.459C>T
  hgvsp: ENST00000525090.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.459C>T
  hgvsp: ENST00000529202.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26630G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.459C>T
  hgvsp: ENST00000528583.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21904
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2641
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr153Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

11-27114840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114840
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114840
    reference: chr 11
allele count: 5
allele frequency: 4.134896875671921e-5
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.460G>A
  hgvsp: ENSP00000433772.1:p.Gly154Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.460G>A
  hgvsp: ENSP00000263182.3:p.Gly154Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22159G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.460G>A
  hgvsp: ENSP00000435781.1:p.Gly154Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26631C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45981C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.460G>A
  hgvsp: ENSP00000434918.1:p.Gly154Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26631C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6441
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 33012
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly154Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

11-27114841-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114841
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114841
    reference: chr 11
allele count: 1
allele frequency: 8.270204108637402e-6
allele num: 120916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.461G>A
  hgvsp: ENSP00000434918.1:p.Gly154Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.461G>A
  hgvsp: ENSP00000435781.1:p.Gly154Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.461G>A
  hgvsp: ENSP00000263182.3:p.Gly154Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26632C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22158G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26632C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.461G>A
  hgvsp: ENSP00000433772.1:p.Gly154Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45982C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10943
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8634
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33025
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly154Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/11-27114847-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114847
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114847
    reference: chr 11
allele count: 1
allele frequency: 8.270067318347971e-6
allele num: 120918
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26638G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.467C>A
  hgvsp: ENSP00000435781.1:p.Ser156Tyr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45988G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.467C>A
  hgvsp: ENSP00000434918.1:p.Ser156Tyr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.467C>A
  hgvsp: ENSP00000433772.1:p.Ser156Tyr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22152C>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26638G>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.467C>A
  hgvsp: ENSP00000263182.3:p.Ser156Tyr
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser156Tyr
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

11-27114848-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114848
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114848
    reference: chr 11
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.468T>A
  hgvsp: ENST00000263182.3:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26639A>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.468T>A
  hgvsp: ENST00000525090.1:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.468T>A
  hgvsp: ENST00000529202.1:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.468T>A
  hgvsp: ENST00000528583.1:c.468T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26639A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45989A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22151T>A
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1569
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33027
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser156Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

11-27114855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114855
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114855
    reference: chr 11
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-45996G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26646G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.475C>G
  hgvsp: ENSP00000433772.1:p.Pro159Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22144C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.475C>G
  hgvsp: ENSP00000263182.3:p.Pro159Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.475C>G
  hgvsp: ENSP00000434918.1:p.Pro159Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.475C>G
  hgvsp: ENSP00000435781.1:p.Pro159Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26646G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro159Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/11-27114871-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114871
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114871
    reference: chr 11
allele count: 1
allele frequency: 8.276775368316504e-6
allele num: 120820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26662T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46012T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.491A>C
  hgvsp: ENSP00000435781.1:p.Lys164Thr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.491A>C
  hgvsp: ENSP00000263182.3:p.Lys164Thr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.491A>C
  hgvsp: ENSP00000434918.1:p.Lys164Thr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22128A>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.491A>C
  hgvsp: ENSP00000433772.1:p.Lys164Thr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26662T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3916
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Lys164Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-27114876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114876
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114876
    reference: chr 11
allele count: 2
allele frequency: 1.655793621882969e-5
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.496G>A
  hgvsp: ENSP00000435781.1:p.Gly166Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.496G>A
  hgvsp: ENSP00000433772.1:p.Gly166Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26667C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26667C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.496G>A
  hgvsp: ENSP00000434918.1:p.Gly166Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22123G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46017C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.496G>A
  hgvsp: ENSP00000263182.3:p.Gly166Arg
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10908
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly166Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

11-27114879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114879
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114879
    reference: chr 11
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.499A>G
  hgvsp: ENSP00000433772.1:p.Lys167Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.499A>G
  hgvsp: ENSP00000435781.1:p.Lys167Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26670T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.499A>G
  hgvsp: ENSP00000434918.1:p.Lys167Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.499A>G
  hgvsp: ENSP00000263182.3:p.Lys167Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26670T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46020T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22120A>G
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6429
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys167Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/11-27114885-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114885
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114885
    reference: chr 11
allele count: 10
allele frequency: 8.284455048546907e-5
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46026T>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26676T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.505A>C
  hgvsp: ENSP00000263182.3:p.Met169Leu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.505A>C
  hgvsp: ENSP00000433772.1:p.Met169Leu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.505A>C
  hgvsp: ENSP00000435781.1:p.Met169Leu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22114A>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.505A>C
  hgvsp: ENSP00000434918.1:p.Met169Leu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26676T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met169Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

11-27114888-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114888
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114888
    reference: chr 11
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26679C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22111G>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.508G>C
  hgvsp: ENSP00000263182.3:p.Gly170Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.508G>C
  hgvsp: ENSP00000435781.1:p.Gly170Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46029C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.508G>C
  hgvsp: ENSP00000433772.1:p.Gly170Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26679C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.508G>C
  hgvsp: ENSP00000434918.1:p.Gly170Arg
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3908
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly170Arg
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: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

11-27114889-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114889
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114889
    reference: chr 11
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.509G>T
  hgvsp: ENSP00000434918.1:p.Gly170Val
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.509G>T
  hgvsp: ENSP00000433772.1:p.Gly170Val
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46030C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26680C>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26680C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.509G>T
  hgvsp: ENSP00000435781.1:p.Gly170Val
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.509G>T
  hgvsp: ENSP00000263182.3:p.Gly170Val
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22110G>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly170Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-27114899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114899
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114899
    reference: chr 11
allele count: 1
allele frequency: 8.302475798283047e-6
allele num: 120446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26690A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22100T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.519T>C
  hgvsp: ENST00000263182.3:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.519T>C
  hgvsp: ENST00000525090.1:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46040A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26690A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.519T>C
  hgvsp: ENST00000528583.1:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.519T>C
  hgvsp: ENST00000529202.1:c.519T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3887
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr173Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

11-27114911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114911
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114911
    reference: chr 11
allele count: 1
allele frequency: 8.322237017310253e-6
allele num: 120160
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26702A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.531T>C
  hgvsp: ENST00000528583.1:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.531T>C
  hgvsp: ENST00000525090.1:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.531T>C
  hgvsp: ENST00000529202.1:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.531T>C
  hgvsp: ENST00000263182.3:c.531T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26702A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46052A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22088T>C
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32190
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
hgvs: c.531T>C
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

11-27114913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114913
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114913
    reference: chr 11
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26704C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.533G>A
  hgvsp: ENSP00000434918.1:p.Gly178Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.533G>A
  hgvsp: ENSP00000435781.1:p.Gly178Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22086G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26704C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.533G>A
  hgvsp: ENSP00000433772.1:p.Gly178Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.533G>A
  hgvsp: ENSP00000263182.3:p.Gly178Glu
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46054C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly178Glu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-27114914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114914
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114914
    reference: chr 11
allele count: 1
allele frequency: 8.329862557267805e-6
allele num: 120050
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.533+1G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26705C>T
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.533+1G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.533+1G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46055C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26705C>T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.533+1G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22085G>A
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
hgvs: c.533+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

11-27114942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114942
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114942
    reference: chr 11
allele count: 1
allele frequency: 8.410428931875526e-6
allele num: 118900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.533+29C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.533+29C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22057C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.533+29C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46083G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26733G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.533+29C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26733G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1054
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

11-27114943-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114943
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114943
    reference: chr 11
allele count: 1
allele frequency: 8.409863087428936e-6
allele num: 118908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26734T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26734T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22056A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.533+30A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46084T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.533+30A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.533+30A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.533+30A>G
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17794
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2458
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24092
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

11-27114962-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27114962
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27114962
    reference: chr 11
allele count: 1
allele frequency: 8.517162081594413e-6
allele num: 117410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.668-26753T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.533+49A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22037A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.533+49A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.533+49A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.335-26753T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.345-46103T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.533+49A>G
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4523
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
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: A
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

11-27136949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136949
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136949
    reference: chr 11
allele count: 1
allele frequency: 8.562083668681611e-6
allele num: 116794
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35648G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-50C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35648G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-50C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35648G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-50C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-50C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-50C>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8257
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5311
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7041
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

11-27136951-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136951
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136951
    reference: chr 11
allele count: 4
allele frequency: 3.417576596435468e-5
allele num: 117042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35646G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35646G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35646G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-48C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-48C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-48C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-48C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-48C>G
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8638
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4073
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7991
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP

11-27136960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136960
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136960
    reference: chr 11
allele count: 1
allele frequency: 8.524422470377632e-6
allele num: 117310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35637A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-39T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-39T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-39T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35637A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-39T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35637A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-39T>C
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2908
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS

11-27136967-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136967
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136967
    reference: chr 11
allele count: 2
allele frequency: 1.699957501062473e-5
allele num: 117650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35630G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-32C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-32C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35630G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-32C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-32C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-32C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35630G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

11-27136967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136967
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136967
    reference: chr 11
allele count: 2
allele frequency: 1.699957501062473e-5
allele num: 117650
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-32C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35630G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-32C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35630G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35630G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-32C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-32C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-32C>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

11-27136969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136969
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136969
    reference: chr 11
allele count: 15
allele frequency: 1.272523668940242e-4
allele num: 117876
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-30G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35628C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-30G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-30G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35628C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-30G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35628C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-30G>A
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18027
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13782
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9326
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2958
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

11-27136976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136976
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136976
    reference: chr 11
allele count: 1
allele frequency: 8.453657052040712e-6
allele num: 118292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-23C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35621G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35621G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-23C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35621G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-23C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-23C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-23C>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7734
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

11-27136977-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136977
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136977
    reference: chr 11
allele count: 5
allele frequency: 4.220121539500338e-5
allele num: 118480
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-22A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-22A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-22A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35620T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-22A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35620T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-22A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35620T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2751
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14290
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

11-27136980-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136980
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136980
    reference: chr 11
allele count: 1
allele frequency: 8.427723840345199e-6
allele num: 118656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-19T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-19T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35617A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-19T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-19T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35617A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35617A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-19T>C
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-27136980-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136980
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136980
    reference: chr 11
allele count: 1
allele frequency: 8.427723840345199e-6
allele num: 118656
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35617A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-19T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35617A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35617A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-19T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-19T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-19T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-19T>G
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/11-27136989-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136989
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136989
    reference: chr 11
allele count: 1
allele frequency: 8.378437253883405e-6
allele num: 119354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-10C>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35608G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-10C>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35608G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-10C>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-10C>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35608G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-10C>A
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7990
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-27136994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136994
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136994
    reference: chr 11
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-5T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35603A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-5T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35603A>G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-5T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35603A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-5T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-5T>C
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7979
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: c.534-5T>C
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-27136996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27136996
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27136996
    reference: chr 11
allele count: 1
allele frequency: 8.339866228545694e-6
allele num: 119906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.380-3C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.534-3C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35601G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35601G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.534-3C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.534-3C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35601G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.534-3C>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 8.25e1
  variant carriers: 0
hgvs: c.534-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-27137000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137000
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137000
    reference: chr 11
allele count: 31
allele frequency: 2.580280001997636e-4
allele num: 120142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.535C>T
  hgvsp: ENSP00000433772.1:p.His179Tyr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.535C>T
  hgvsp: ENSP00000435781.1:p.His179Tyr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35597G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.381C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35597G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.535C>T
  hgvsp: ENSP00000434918.1:p.His179Tyr
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35597G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.535C>T
  hgvsp: ENSP00000263182.3:p.His179Tyr
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9679
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 21320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8012
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 29816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8000
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His179Tyr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

11-27137003-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137003
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137003
    reference: chr 11
allele count: 1
allele frequency: 8.310755780130645e-6
allele num: 120326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.538A>G
  hgvsp: ENSP00000433772.1:p.Thr180Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35594T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.538A>G
  hgvsp: ENSP00000435781.1:p.Thr180Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35594T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.538A>G
  hgvsp: ENSP00000434918.1:p.Thr180Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35594T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.384A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.538A>G
  hgvsp: ENSP00000263182.3:p.Thr180Ala
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr180Ala
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

11-27137005-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137005
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137005
    reference: chr 11
allele count: 1
allele frequency: 8.304682179812978e-6
allele num: 120414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35592A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35592A>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.540T>G
  hgvsp: ENST00000525090.1:c.540T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.540T>G
  hgvsp: ENST00000263182.3:c.540T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.540T>G
  hgvsp: ENST00000529202.1:c.540T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.540T>G
  hgvsp: ENST00000528583.1:c.540T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.386T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35592A>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4080
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr180Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

11-27137006-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137006
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137006
    reference: chr 11
allele count: 1
allele frequency: 8.302889405513118e-6
allele num: 120440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.387T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.541T>C
  hgvsp: ENSP00000433772.1:p.Trp181Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35591A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35591A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35591A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.541T>C
  hgvsp: ENSP00000263182.3:p.Trp181Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.541T>C
  hgvsp: ENSP00000435781.1:p.Trp181Arg
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.541T>C
  hgvsp: ENSP00000434918.1:p.Trp181Arg
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7991
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Trp181Arg
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-27137026-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137026
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137026
    reference: chr 11
allele count: 1
allele frequency: 8.279105194310599e-6
allele num: 120786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.561C>T
  hgvsp: ENST00000529202.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.561C>T
  hgvsp: ENST00000528583.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.407C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.561C>T
  hgvsp: ENST00000263182.3:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.561C>T
  hgvsp: ENST00000525090.1:c.561C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35571G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35571G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35571G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile187Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

11-27137027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137027
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137027
    reference: chr 11
allele count: 3
allele frequency: 2.483484825907714e-5
allele num: 120798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35570C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35570C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.562G>A
  hgvsp: ENSP00000263182.3:p.Asp188Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.562G>A
  hgvsp: ENSP00000434918.1:p.Asp188Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.562G>A
  hgvsp: ENSP00000433772.1:p.Asp188Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35570C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.562G>A
  hgvsp: ENSP00000435781.1:p.Asp188Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.408G>A
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3060
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp188Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

11-27137038-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137038
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137038
    reference: chr 11
allele count: 2
allele frequency: 1.654807214959457e-5
allele num: 120860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.419T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.573T>C
  hgvsp: ENST00000263182.3:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35559A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35559A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.573T>C
  hgvsp: ENST00000528583.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.573T>C
  hgvsp: ENST00000529202.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.573T>C
  hgvsp: ENST00000525090.1:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35559A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn191Asn
num of homozygotes: 1
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-27137042-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137042
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137042
    reference: chr 11
allele count: 1
allele frequency: 8.273214640280627e-6
allele num: 120872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35555C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.577G>C
  hgvsp: ENSP00000434918.1:p.Ala193Pro
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.577G>C
  hgvsp: ENSP00000433772.1:p.Ala193Pro
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.423G>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35555C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.577G>C
  hgvsp: ENSP00000435781.1:p.Ala193Pro
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.577G>C
  hgvsp: ENSP00000263182.3:p.Ala193Pro
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35555C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala193Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-27137042-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137042
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137042
    reference: chr 11
allele count: 2
allele frequency: 1.654642928056125e-5
allele num: 120872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.577G>T
  hgvsp: ENSP00000433772.1:p.Ala193Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.577G>T
  hgvsp: ENSP00000263182.3:p.Ala193Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35555C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35555C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.577G>T
  hgvsp: ENSP00000435781.1:p.Ala193Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.577G>T
  hgvsp: ENSP00000434918.1:p.Ala193Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35555C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.423G>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala193Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

11-27137064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137064
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137064
    reference: chr 11
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.445G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.599G>A
  hgvsp: ENSP00000435781.1:p.Ser200Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35533C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.599G>A
  hgvsp: ENSP00000263182.3:p.Ser200Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.599G>A
  hgvsp: ENSP00000433772.1:p.Ser200Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.599G>A
  hgvsp: ENSP00000434918.1:p.Ser200Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35533C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35533C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser200Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-27137065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137065
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137065
    reference: chr 11
allele count: 1
allele frequency: 8.271298593879239e-6
allele num: 120900
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.600C>T
  hgvsp: ENST00000263182.3:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.600C>T
  hgvsp: ENST00000528583.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.600C>T
  hgvsp: ENST00000529202.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35532G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35532G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.600C>T
  hgvsp: ENST00000525090.1:c.600C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.446C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35532G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser200Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

11-27137067-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137067
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137067
    reference: chr 11
allele count: 7
allele frequency: 5.790196370374047e-5
allele num: 120894
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35530A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.602T>C
  hgvsp: ENSP00000433772.1:p.Phe201Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35530A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.602T>C
  hgvsp: ENSP00000263182.3:p.Phe201Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.602T>C
  hgvsp: ENSP00000434918.1:p.Phe201Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35530A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.602T>C
  hgvsp: ENSP00000435781.1:p.Phe201Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.448T>C
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8096
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe201Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

11-27137073-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137073
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137073
    reference: chr 11
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.608C>G
  hgvsp: ENSP00000263182.3:p.Thr203Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.608C>G
  hgvsp: ENSP00000434918.1:p.Thr203Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35524G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.454C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.608C>G
  hgvsp: ENSP00000433772.1:p.Thr203Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35524G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.608C>G
  hgvsp: ENSP00000435781.1:p.Thr203Ser
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35524G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7987
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr203Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-27137073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137073
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137073
    reference: chr 11
allele count: 2
allele frequency: 1.65461555007694e-5
allele num: 120874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35524G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35524G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.454C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.608C>T
  hgvsp: ENSP00000434918.1:p.Thr203Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.608C>T
  hgvsp: ENSP00000435781.1:p.Thr203Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.608C>T
  hgvsp: ENSP00000263182.3:p.Thr203Ile
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35524G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.608C>T
  hgvsp: ENSP00000433772.1:p.Thr203Ile
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7987
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr203Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

11-27137074-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137074
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137074
    reference: chr 11
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.609T>C
  hgvsp: ENST00000529202.1:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35523A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.609T>C
  hgvsp: ENST00000263182.3:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.609T>C
  hgvsp: ENST00000525090.1:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.609T>C
  hgvsp: ENST00000528583.1:c.609T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35523A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.455T>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35523A>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr203Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

11-27137075-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137075
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137075
    reference: chr 11
allele count: 3
allele frequency: 2.48216974731512e-5
allele num: 120862
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.610G>C
  hgvsp: ENSP00000263182.3:p.Asp204His
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.610G>C
  hgvsp: ENSP00000435781.1:p.Asp204His
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.610G>C
  hgvsp: ENSP00000434918.1:p.Asp204His
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35522C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.456G>C
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35522C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.610G>C
  hgvsp: ENSP00000433772.1:p.Asp204His
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35522C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp204His
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-27137078-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137078
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137078
    reference: chr 11
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.613T>A
  hgvsp: ENSP00000434918.1:p.Tyr205Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35519A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.613T>A
  hgvsp: ENSP00000435781.1:p.Tyr205Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.613T>A
  hgvsp: ENSP00000263182.3:p.Tyr205Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.613T>A
  hgvsp: ENSP00000433772.1:p.Tyr205Asn
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.459T>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35519A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35519A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr205Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

11-27137081-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137081
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137081
    reference: chr 11
allele count: 1
allele frequency: 8.276227364518158e-6
allele num: 120828
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.616C>G
  hgvsp: ENSP00000263182.3:p.Pro206Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.462C>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35516G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.616C>G
  hgvsp: ENSP00000435781.1:p.Pro206Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.616C>G
  hgvsp: ENSP00000433772.1:p.Pro206Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35516G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.616C>G
  hgvsp: ENSP00000434918.1:p.Pro206Ala
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35516G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9786
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro206Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-27137082-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137082
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137082
    reference: chr 11
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.617C>A
  hgvsp: ENSP00000263182.3:p.Pro206Gln
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.617C>A
  hgvsp: ENSP00000433772.1:p.Pro206Gln
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.463C>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.617C>A
  hgvsp: ENSP00000434918.1:p.Pro206Gln
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35515G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35515G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.617C>A
  hgvsp: ENSP00000435781.1:p.Pro206Gln
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35515G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4072
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro206Gln
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

11-27137086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137086
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137086
    reference: chr 11
allele count: 508
allele frequency: 4.205646162761818e-3
allele num: 120790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35511G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.621C>T
  hgvsp: ENST00000528583.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.621C>T
  hgvsp: ENST00000263182.3:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.621C>T
  hgvsp: ENST00000525090.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.621C>T
  hgvsp: ENST00000529202.1:c.621C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35511G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35511G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.467C>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 21102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9731
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 9.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 6.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala207Ala
num of homozygotes: 13
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

11-27137104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137104
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137104
    reference: chr 11
allele count: 1
allele frequency: 8.328058896032513e-6
allele num: 120076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.639G>A
  hgvsp: ENST00000525090.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.639G>A
  hgvsp: ENST00000529202.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.639G>A
  hgvsp: ENST00000263182.3:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.485G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35493C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35493C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.639G>A
  hgvsp: ENST00000528583.1:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35493C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19555
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5309
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.75e1
  variant carriers: 0
hgvs: c.639G>A
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-27137108-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137108
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137109
    reference: chr 11
allele count: 5418
allele frequency: 4.501271123074622e-2
allele num: 120366
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35488dupC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.485+5dupG
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.639+5dupG
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.639+5dupG
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.639+5dupG
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.639+5dupG
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35488dupC
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35488dupC
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 4.25e1
  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.25e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 331
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.75e1
  variant carriers: 431
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 351
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 14974
  bin: 2.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 2.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 9.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 5.25e1
  variant carriers: 405
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 213
genotype depth: GenotypeDepth
  all individuals: 1939
  bin: 4.75e1
  variant carriers: 449
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.25e1
  variant carriers: 379
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 9.75e1
  variant carriers: 507
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2813
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3726
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7395
  bin: 6.75e1
  variant carriers: 3
hgvs: c.639+5dupG
num of homozygotes: 175
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

11-27137109-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137109
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137109
    reference: chr 11
allele count: 1
allele frequency: 9.102328375598477e-6
allele num: 109862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.639+5G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.639+5G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35488C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35488C>T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.639+5G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.639+5G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.485+5G>A
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35488C>T
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 2.5e0
  variant carriers: 0
hgvs: c.639+5G>A
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

11-27137120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137120
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137120
    reference: chr 11
allele count: 3
allele frequency: 2.500625156289072e-5
allele num: 119970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35477G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35477G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.639+16C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.485+16C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35477G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.639+16C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.639+16C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.639+16C>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3043
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

11-27137121-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137121
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137121
    reference: chr 11
allele count: 21
allele frequency: 1.749912504374781e-4
allele num: 120006
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35476T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35476T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35476T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.639+17A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.639+17A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.485+17A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.639+17A>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.639+17A>G
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17773
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10001
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16349
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2820
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-27137131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137131
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137131
    reference: chr 11
allele count: 1
allele frequency: 8.354777261638205e-6
allele num: 119692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35466G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.639+27C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.639+27C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35466G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.639+27C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35466G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.639+27C>T
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.485+27C>T
  variant of: http://identifiers.org/hgnc/964
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9895
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

11-27137144-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27137144
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 27137144
    reference: chr 11
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000435781
  ensembl transcript: ENST00000529202
  gene symbol: BBOX1
  hgvsc: ENST00000529202.1:c.639+40T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000526061
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000526061.1:n.344+35453A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000434918
  ensembl transcript: ENST00000528583
  gene symbol: BBOX1
  hgvsc: ENST00000528583.1:c.639+40T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000433772
  ensembl transcript: ENST00000525090
  gene symbol: BBOX1
  hgvsc: ENST00000525090.1:c.639+40T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000530430
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000530430.1:n.667+35453A>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl protein: ENSP00000263182
  ensembl transcript: ENST00000263182
  gene symbol: BBOX1
  hgvsc: ENST00000263182.3:c.639+40T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129151
  ensembl transcript: ENST00000527505
  gene symbol: BBOX1
  hgvsc: ENST00000527505.1:n.485+40T>G
  variant of: http://identifiers.org/hgnc/964
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254560
  ensembl transcript: ENST00000525302
  gene symbol: RP11-1L12.3
  hgvsc: ENST00000525302.1:n.334+35453A>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13710
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3326
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7281
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4438
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 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: 66528
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.788890841975742e-5
allele num: 11378
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: 8564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.477e1

DP
type: SiteQuality
SIO_000300: 1.755762e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 9.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 8060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2006
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30320
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 55
allele frequency: 5.29457065845206e-3
allele num: 10388
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.635277582572031e-4
allele num: 11384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.565e1

DP
type: SiteQuality
SIO_000300: 1.758684e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 8060
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502945773716484e-5
allele num: 66536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

DP
type: SiteQuality
SIO_000300: 1.758684e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.565e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7332
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
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: 8566
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502990951994469e-5
allele num: 66534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.098e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.758744e6

FS
type: SiteQuality
SIO_000300: 1.5039e1

QD
type: SiteQuality
SIO_000300: 1.571e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7332
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variant carriers: 1

GenotypeQuality
all individuals: 30306
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.794e0

QD
type: SiteQuality
SIO_000300: 1.281e1

FS
type: SiteQuality
SIO_000300: 3.036e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.758923e6

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 15
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variant carriers: 3

GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 22
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variant carriers: 3

GenotypeQuality
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variant carriers: 24

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 7

GenotypeQuality
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bin: 6.25e1
variant carriers: 16

GenotypeQuality
all individuals: 824
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variant carriers: 25

GenotypeQuality
all individuals: 21
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variant carriers: 5

GenotypeQuality
all individuals: 2266
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variant carriers: 20

GenotypeQuality
all individuals: 5018
bin: 6.75e1
variant carriers: 12

Latino
type: Population
allele count: 1464
allele frequency: 1.287146122736065e-1
allele num: 11374
num of homozygotes: 106

Other
type: Population
allele count: 234
allele frequency: 2.577092511013216e-1
allele num: 908
num of homozygotes: 30

European (Finnish)
type: Population
allele count: 1752
allele frequency: 2.659380692167577e-1
allele num: 6588
num of homozygotes: 239

South Asian
type: Population
allele count: 3127
allele frequency: 1.894692195831314e-1
allele num: 16504
num of homozygotes: 303

African
type: Population
allele count: 6139
allele frequency: 5.901749663526245e-1
allele num: 10402
num of homozygotes: 1804

East Asian
type: Population
allele count: 354
allele frequency: 4.131652661064426e-2
allele num: 8568
num of homozygotes: 7

European (Non-Finnish)
type: Population
allele count: 15431
allele frequency: 2.318498707855039e-1
allele num: 66556
num of homozygotes: 1762

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

FS
type: SiteQuality
SIO_000300: 5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

DP
type: SiteQuality
SIO_000300: 3.185605e6

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.648e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.38e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 6460
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variant carriers: 2

GenotypeQuality
all individuals: 30
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
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: 6596
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.904e0

FS
type: SiteQuality
SIO_000300: 8.491e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.299e1

VQSLOD
type: SiteQuality
SIO_000300: -6.08e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.874766e6

GenotypeQuality
all individuals: 2942
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 178
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variant carriers: 0

GenotypeQuality
all individuals: 13
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 16
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1115
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variant carriers: 0

GenotypeQuality
all individuals: 3939
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 908
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.874578e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.515e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.656e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.503e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2649
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variant carriers: 0

GenotypeQuality
all individuals: 1571
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variant carriers: 0

GenotypeQuality
all individuals: 6454
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variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
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: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.320000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.87462e6

MQRankSum
type: SiteQuality
SIO_000300: -1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.558e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

DP
type: SiteQuality
SIO_000300: 1.874586e6

FS
type: SiteQuality
SIO_000300: 1.838e0

MQRankSum
type: SiteQuality
SIO_000300: -1.405e0

QD
type: SiteQuality
SIO_000300: 1.373e1

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 6443
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 186
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
all individuals: 1108
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GenotypeQuality
all individuals: 16
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
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: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
SIO_000300: 1.874456e6

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2938
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2648
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8652
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.176e0

DP
type: SiteQuality
SIO_000300: 1.874316e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.24e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.027e0

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.25e-1

GenotypeQuality
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6450
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2933
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518372304889159e-4
allele num: 6586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 6.665050896752302e-4
allele num: 16504
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.83e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

QD
type: SiteQuality
SIO_000300: 2.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.875136e6

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1106
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.007088364269839e-5
allele num: 66588
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.874242e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.192e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.209e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

GenotypeQuality
all individuals: 1106
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 6437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.67e0

FS
type: SiteQuality
SIO_000300: 1.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 1.873856e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

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

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 31
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 6436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 8634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 9.25e1
variant carriers: 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: 10398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.873512e6

FS
type: SiteQuality
SIO_000300: 9.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.303e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.029e0

QD
type: SiteQuality
SIO_000300: 1.493e1

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3924
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6435
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.3639e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 1.873524e6

VQSLOD
type: SiteQuality
SIO_000300: -2.02e0

QD
type: SiteQuality
SIO_000300: 1.062e1

GenotypeQuality
all individuals: 6435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8629
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2643
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2927
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.775008775008775e-5
allele num: 11396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

FS
type: SiteQuality
SIO_000300: 1.785e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

DP
type: SiteQuality
SIO_000300: 1.873113e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.103e1

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

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1103
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6431
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8616
bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e0

FS
type: SiteQuality
SIO_000300: 6.899999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

DP
type: SiteQuality
SIO_000300: 1.871469e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

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

GenotypeQuality
all individuals: 3913
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32930
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6431
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2640
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006072265977274e-5
allele num: 66532
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.9018e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.081e0

VQSLOD
type: SiteQuality
SIO_000300: -2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.54e-1

QD
type: SiteQuality
SIO_000300: 2.934e1

DP
type: SiteQuality
SIO_000300: 1.871124e6

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510464277122925e-5
allele num: 66512
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.870516e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.75e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.501e1

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

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

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 10

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.067224851352991e-4
allele num: 16482
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

QD
type: SiteQuality
SIO_000300: 1.289e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.869613e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2912
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.521606816798539e-4
allele num: 6572
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.413e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 1.868496e6

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.23e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.084e0

QD
type: SiteQuality
SIO_000300: 1.186e1

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505117399157134e-5
allele num: 66440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.867e1

QD
type: SiteQuality
SIO_000300: 1.108e1

VQSLOD
type: SiteQuality
SIO_000300: -1.04e0

DP
type: SiteQuality
SIO_000300: 1.868002e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e0

FS
type: SiteQuality
SIO_000300: 1.154e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.82e-1

GenotypeQuality
all individuals: 8533
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variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2899
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 2630
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variant carriers: 0

GenotypeQuality
all individuals: 32584
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66354
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.180916391119509e-4
allele num: 8468
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: 902
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.65e0

DP
type: SiteQuality
SIO_000300: 1.863701e6

MQRankSum
type: SiteQuality
SIO_000300: -1.697e0

FS
type: SiteQuality
SIO_000300: 5.151e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -2.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.457e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

GenotypeQuality
all individuals: 1088
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510619656182966e-5
allele num: 66198
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: 16416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.392e0

QD
type: SiteQuality
SIO_000300: 1.304e1

FS
type: SiteQuality
SIO_000300: 6.988e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.143e-1

DP
type: SiteQuality
SIO_000300: 1.855645e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
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: 16410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66154
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.853786e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

QD
type: SiteQuality
SIO_000300: 1.223e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 1553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6408
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
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: 8428
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.095330976472023e-5
allele num: 16406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.008e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.852558e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7582
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65542
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.162188809465122e-5
allele num: 16228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

DP
type: SiteQuality
SIO_000300: 1.764358e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.65e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.41e0

QD
type: SiteQuality
SIO_000300: 1.386e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 90
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1052
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2495
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.52522725886157e-5
allele num: 65564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

FS
type: SiteQuality
SIO_000300: 3.078e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

DP
type: SiteQuality
SIO_000300: 1.75236e6

VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

QD
type: SiteQuality
SIO_000300: 1.006e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544449249397665e-5
allele num: 64748
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.668563e6

QD
type: SiteQuality
SIO_000300: 6.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
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SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.164e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7989
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14758
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539882968894364e-5
allele num: 64940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.83e-1

DP
type: SiteQuality
SIO_000300: 1.702224e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 5.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.83e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1914
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.979885057471264e-5
allele num: 11136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.614248800295312e-5
allele num: 65016
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14842
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.594e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.706365e6

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20989
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 7329
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535390756947643e-5
allele num: 65130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.738e-1

DP
type: SiteQuality
SIO_000300: 1.737256e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e-1

QD
type: SiteQuality
SIO_000300: 6.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 7543
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1352
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GenotypeQuality
all individuals: 1432
bin: 3.75e1
variant carriers: 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: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15048
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.062318174858368e-5
allele num: 65310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.765864e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

FS
type: SiteQuality
SIO_000300: 6.362e0

QD
type: SiteQuality
SIO_000300: 1.507e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
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: 874
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15048
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.72762645914397e-5
allele num: 10280
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531159087429184e-5
allele num: 65310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.362e0

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 1.765864e6

QD
type: SiteQuality
SIO_000300: 1.507e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.464e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 15

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1355
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.898376666226739e-4
allele num: 15154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.955e0

FS
type: SiteQuality
SIO_000300: 1.147e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.348e1

MQRankSum
type: SiteQuality
SIO_000300: -7.61e-1

DP
type: SiteQuality
SIO_000300: 1.772936e6

VQSLOD
type: SiteQuality
SIO_000300: 7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1924
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524622655892666e-5
allele num: 65590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15228
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

QD
type: SiteQuality
SIO_000300: 8.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 2.665e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 1.795343e6

MQRankSum
type: SiteQuality
SIO_000300: 6.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3029
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GenotypeQuality
all individuals: 1924
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.263707571801567e-4
allele num: 15320
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.801e0

DP
type: SiteQuality
SIO_000300: 1.797472e6

QD
type: SiteQuality
SIO_000300: 1.337e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.803562e6

QD
type: SiteQuality
SIO_000300: 1.453e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65714
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

DP
type: SiteQuality
SIO_000300: 1.803562e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

MQ
type: SiteQuality
SIO_000300: 5.876e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.366993505666624e-5
allele num: 15706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.668e0

DP
type: SiteQuality
SIO_000300: 1.822381e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.269592476489028e-5
allele num: 15950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
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: 890
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.829906e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.812e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29577
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.832361773538245e-5
allele num: 11322
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.833331e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.200396825396825e-5
allele num: 16128
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.646903123345686e-4
allele num: 11334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.043213633597079e-4
allele num: 6572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.624830086089715e-4
allele num: 66210
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 1.513e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11340
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 900
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509160604871571e-5
allele num: 66262
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.205e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.95e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.15e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

DP
type: SiteQuality
SIO_000300: 1.839988e6

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
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Latino
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South Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
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African
type: Population
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Other
type: Population
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allele num: 902
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FS
type: SiteQuality
SIO_000300: 1.01e1

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 6.135722174499939e-5
allele num: 16298
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

FS
type: SiteQuality
SIO_000300: 1.0082e1

DP
type: SiteQuality
SIO_000300: 1.841964e6

VQSLOD
type: SiteQuality
SIO_000300: -4.289e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.146e1

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

GenotypeQuality
all individuals: 3053
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7989
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.106e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.0e-1

DP
type: SiteQuality
SIO_000300: 1.848365e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.63e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.28e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

GenotypeQuality
all individuals: 7988
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.513857542655954e-5
allele num: 66462
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.848806e6

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

FS
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.81e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1927
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variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007790176557283e-5
allele num: 66494
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.849406e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.55e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 2.809e1

FS
type: SiteQuality
SIO_000300: 3.763e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -2.493e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

GenotypeQuality
all individuals: 216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8108
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1927
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 11366
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.185e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

DP
type: SiteQuality
SIO_000300: 1.849825e6

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 1.754e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 30723
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.007699711260828e-5
allele num: 66496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.849825e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

FS
type: SiteQuality
SIO_000300: 1.754e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.51e-1

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.185e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 8099
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variant carriers: 0

GenotypeQuality
all individuals: 208
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.849909e6

FS
type: SiteQuality
SIO_000300: 6.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.908e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.453e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

DP
type: SiteQuality
SIO_000300: 1.84983e6

MQRankSum
type: SiteQuality
SIO_000300: -1.176e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
SIO_000300: 5.885e1

FS
type: SiteQuality
SIO_000300: 2.415e0

QD
type: SiteQuality
SIO_000300: 1.143e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.025e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

GenotypeQuality
all individuals: 30692
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 1925
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GenotypeQuality
all individuals: 82
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GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 7
allele frequency: 4.247572815533981e-4
allele num: 16480
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.235e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.849868e6

QD
type: SiteQuality
SIO_000300: 1.25e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 8.56e-1

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 1925
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8096
bin: 6.75e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

DP
type: SiteQuality
SIO_000300: 1.849785e6

QD
type: SiteQuality
SIO_000300: 1.058e1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8096
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 1.849785e6

QD
type: SiteQuality
SIO_000300: 1.058e1

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

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7986
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3051
bin: 8.25e1
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GenotypeQuality
all individuals: 1925
bin: 9.25e1
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GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3052
bin: 7.25e1
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GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.189e0

QD
type: SiteQuality
SIO_000300: 9.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.849664e6

MQRankSum
type: SiteQuality
SIO_000300: -2.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.369e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.028e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

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

GenotypeQuality
all individuals: 8097
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30681
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
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variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7987
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1925
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511820970943873e-5
allele num: 66492
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.897e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.987e1

DP
type: SiteQuality
SIO_000300: 1.849667e6

QD
type: SiteQuality
SIO_000300: 2.106e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3049
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4074
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8096
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
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variant carriers: 0

GenotypeQuality
all individuals: 30625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7985
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1926
bin: 9.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
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: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.275e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.104e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 1.849215e6

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

GenotypeQuality
all individuals: 8080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30585
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7986
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3049
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
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: 10394
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.849025e6

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

MQ
type: SiteQuality
SIO_000300: 6.028e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.0482e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30589
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3048
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7985
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 293
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504392827055001e-5
allele num: 66472
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.586e1

MQRankSum
type: SiteQuality
SIO_000300: -7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.578e1

DP
type: SiteQuality
SIO_000300: 1.849134e6

VQSLOD
type: SiteQuality
SIO_000300: -1.961e0

GenotypeQuality
all individuals: 30294
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8025
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8313
bin: 9.75e1
variant carriers: 493

GenotypeQuality
all individuals: 3019
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 421
allele frequency: 4.051973051010587e-2
allele num: 10390
num of homozygotes: 12

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

Latino
type: Population
allele count: 19
allele frequency: 1.672829723542877e-3
allele num: 11358
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 9.95575221238938e-3
allele num: 904
num of homozygotes: 1

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 57
allele frequency: 8.578394485747826e-4
allele num: 66446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

FS
type: SiteQuality
SIO_000300: 2.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.86e-2

DP
type: SiteQuality
SIO_000300: 1.869921e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.404e0

QD
type: SiteQuality
SIO_000300: 1.268e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

GenotypeQuality
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7862
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1914
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3019
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4036
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7897
bin: 9.75e1
variant carriers: 1

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.199628022318661e-5
allele num: 16130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.96e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.563e0

QD
type: SiteQuality
SIO_000300: 1.362e1

DP
type: SiteQuality
SIO_000300: 1.868615e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 5.368e0

VQSLOD
type: SiteQuality
SIO_000300: 4.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.058e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26830
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1736
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1224
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 12342
bin: 9.75e1
variant carriers: 5203

GenotypeQuality
all individuals: 776
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2739
bin: 8.25e1
variant carriers: 9

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 1

Latino
type: Population
allele count: 278
allele frequency: 2.456698480028278e-2
allele num: 11316
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 142
allele frequency: 2.161997563946407e-2
allele num: 6568
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 2713
allele frequency: 4.093858457824053e-2
allele num: 66270
num of homozygotes: 57

East Asian
type: Population
allele count: 356
allele frequency: 4.131847725162489e-2
allele num: 8616
num of homozygotes: 6

Other
type: Population
allele count: 67
allele frequency: 7.444444444444444e-2
allele num: 900
num of homozygotes: 4

South Asian
type: Population
allele count: 1724
allele frequency: 1.05676106411671e-1
allele num: 16314
num of homozygotes: 101

African
type: Population
allele count: 138
allele frequency: 1.329223656328261e-2
allele num: 10382
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 1.99231e6

VQSLOD
type: SiteQuality
SIO_000300: 5.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

FS
type: SiteQuality
SIO_000300: 7.28e-1

MQ
type: SiteQuality
SIO_000300: 6.027e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.56e-2

QD
type: SiteQuality
SIO_000300: 1.549e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26853
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7138
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2730
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.640689089417555e-5
allele num: 60950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.387e1

VQSLOD
type: SiteQuality
SIO_000300: -2.633e0

DP
type: SiteQuality
SIO_000300: 2.003394e6

MQRankSum
type: SiteQuality
SIO_000300: -2.052e0

MQ
type: SiteQuality
SIO_000300: 6.055e1

FS
type: SiteQuality
SIO_000300: 8.055e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8039
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2973
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7742
bin: 9.75e1
variant carriers: 3

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.488372093023256e-4
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66084
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 1.112e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.597e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.827635e6

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2971
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7762
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 479
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 16
allele frequency: 9.889974038818149e-4
allele num: 16178
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026084851419234e-5
allele num: 66092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.486750348675035e-4
allele num: 8604
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

DP
type: SiteQuality
SIO_000300: 1.827099e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
all individuals: 4020
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7739
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 857
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7813
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516024377671993e-5
allele num: 65962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16084
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.15e-1

FS
type: SiteQuality
SIO_000300: 3.305e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

DP
type: SiteQuality
SIO_000300: 1.802656e6

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.02e-1