18-13124581-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124581
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124582
    reference: chr 18
allele count: 2
allele frequency: 1.703026277695465e-5
allele num: 117438
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-49dupC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-49dupC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-49dupC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-49dupC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-49dupC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-49dupC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.256dupC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-49dupC
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-49dupC
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8392
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19083
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3410
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-13124582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124582
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124582
    reference: chr 18
allele count: 2
allele frequency: 1.703229322796021e-5
allele num: 117424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-49C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-49C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-49C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-49C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-49C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-49C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.256C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-49C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-49C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19197
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/18-13124584-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124584
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124584
    reference: chr 18
allele count: 1
allele frequency: 8.522678848415634e-6
allele num: 117334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-47C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-47C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.258C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-47C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-47C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-47C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-47C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-47C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-47C>A
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

18-13124584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124584
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124584
    reference: chr 18
allele count: 25
allele frequency: 2.130669712103908e-4
allele num: 117334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-47C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.258C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-47C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19301
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17088
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27181
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

18-13124585-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124585
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124585
    reference: chr 18
allele count: 1
allele frequency: 8.513826454161559e-6
allele num: 117456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.259G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-46G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-46G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-46G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-46G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-46G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-46G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-46G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-46G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19475
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-13124591-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124591
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124591
    reference: chr 18
allele count: 1
allele frequency: 8.478168715557439e-6
allele num: 117950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.265T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-40T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-40T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-40T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-40T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-40T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-40T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-40T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-40T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-13124595-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124595
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124595
    reference: chr 18
allele count: 1
allele frequency: 8.466110161025414e-6
allele num: 118118
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-36A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-36A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-36A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-36A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.269A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-36A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-36A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-36A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-36A>C
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

18-13124603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124603
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124603
    reference: chr 18
allele count: 1
allele frequency: 8.446231291597689e-6
allele num: 118396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-28C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-28C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-28C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.277C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-28C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-28C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-28C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-28C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-28C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5772
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

18-13124608-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124608
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124608
    reference: chr 18
allele count: 1
allele frequency: 8.4088730428348e-6
allele num: 118922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-23G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-23G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.282G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-23G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-23G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-23G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-23G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-23G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-23G>C
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

18-13124609-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124609
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124609
    reference: chr 18
allele count: 14521
allele frequency: 1.217081552258822e-1
allele num: 119310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-22T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-22T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-22T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-22T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.283T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-22T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-22T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-22T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-22T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 662
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 1670
genotype depth: GenotypeDepth
  all individuals: 5756
  bin: 3.25e1
  variant carriers: 2058
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 20039
  bin: 2.75e1
  variant carriers: 1809
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 3.75e1
  variant carriers: 2039
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 1.25e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.75e1
  variant carriers: 1190
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 735
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.75e1
  variant carriers: 531
genotype depth: GenotypeDepth
  all individuals: 21016
  bin: 2.25e1
  variant carriers: 1260
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 6.25e1
  variant carriers: 342
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 34033
  bin: 6.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 3.75e1
  variant carriers: 17
num of homozygotes: 1080
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

18-13124621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124621
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124621
    reference: chr 18
allele count: 2
allele frequency: 1.664696775482346e-5
allele num: 120142
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2081-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6051-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7476-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5688-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*178-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.295C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*6992-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6092-10C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*334-10C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

18-13124648-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124648
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124648
    reference: chr 18
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*195A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2098A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7493A>G
  hgvsp: ENSP00000427550.1:p.Asn2498Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*351A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7009A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6068A>G
  hgvsp: ENSP00000389190.2:p.Asn2023Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.322A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5705A>G
  hgvsp: ENSP00000317156.8:p.Asn1902Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6109A>G
  hgvsp: ENSP00000467038.1:p.Asn2037Ser
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn2498Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

18-13124653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124653
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124653
    reference: chr 18
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*200C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7014C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.327C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6114C>T
  hgvsp: ENSP00000467038.1:p.Pro2039Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*356C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7498C>T
  hgvsp: ENSP00000427550.1:p.Pro2500Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5710C>T
  hgvsp: ENSP00000317156.8:p.Pro1904Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6073C>T
  hgvsp: ENSP00000389190.2:p.Pro2025Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2103C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro2500Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

18-13124655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124655
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124655
    reference: chr 18
allele count: 10
allele frequency: 8.277734549608463e-5
allele num: 120806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.329C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7500C>T
  hgvsp: ENST00000506447.1:c.7500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*358C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5712C>T
  hgvsp: ENST00000325971.8:c.5712C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6116C>T
  hgvsp: ENST00000511820.2:c.6116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6075C>T
  hgvsp: ENST00000430049.2:c.6075C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2105C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7016C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*202C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26927
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro2500Pro
num of homozygotes: 1
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

18-13124656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124656
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124656
    reference: chr 18
allele count: 3
allele frequency: 2.483114819229241e-5
allele num: 120816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.330G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6117G>A
  hgvsp: ENSP00000467038.1:p.Val2040Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7017G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7501G>A
  hgvsp: ENSP00000427550.1:p.Val2501Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6076G>A
  hgvsp: ENSP00000389190.2:p.Val2026Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5713G>A
  hgvsp: ENSP00000317156.8:p.Val1905Met
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*203G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*359G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2106G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5496
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val2501Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

18-13124663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124663
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124663
    reference: chr 18
allele count: 1
allele frequency: 8.273077750384698e-6
allele num: 120874
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6083T>C
  hgvsp: ENSP00000389190.2:p.Phe2028Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2113T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7024T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*210T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5720T>C
  hgvsp: ENSP00000317156.8:p.Phe1907Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*366T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6124T>C
  hgvsp: ENSP00000467038.1:p.Phe2042Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7508T>C
  hgvsp: ENSP00000427550.1:p.Phe2503Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.337T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe2503Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-13124669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124669
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124669
    reference: chr 18
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.343C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2119C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*216C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6089C>T
  hgvsp: ENSP00000389190.2:p.Pro2030Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5726C>T
  hgvsp: ENSP00000317156.8:p.Pro1909Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7514C>T
  hgvsp: ENSP00000427550.1:p.Pro2505Leu
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*372C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7030C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6130C>T
  hgvsp: ENSP00000467038.1:p.Pro2044Leu
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24574
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5413
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro2505Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

18-13124670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124670
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124670
    reference: chr 18
allele count: 36
allele frequency: 2.97924459598133e-4
allele num: 120836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5727G>A
  hgvsp: ENST00000325971.8:c.5727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*373G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*217G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7515G>A
  hgvsp: ENST00000506447.1:c.7515G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7031G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.344G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6131G>A
  hgvsp: ENST00000511820.2:c.6131G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6090G>A
  hgvsp: ENST00000430049.2:c.6090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2120G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27022
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24507
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46871
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro2505Pro
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

18-13124670-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124670
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124670
    reference: chr 18
allele count: 116
allele frequency: 9.599788142606508e-4
allele num: 120836
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5727G>T
  hgvsp: ENST00000325971.8:c.5727G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.344G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*217G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2120G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6090G>T
  hgvsp: ENST00000430049.2:c.6090G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6131G>T
  hgvsp: ENST00000511820.2:c.6131G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7515G>T
  hgvsp: ENST00000506447.1:c.7515G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7031G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*373G>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 3.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27022
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 24507
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2505Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-13124675-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124675
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124675
    reference: chr 18
allele count: 2
allele frequency: 1.654642928056125e-5
allele num: 120872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5732C>A
  hgvsp: ENSP00000317156.8:p.Ser1911Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6095C>A
  hgvsp: ENSP00000389190.2:p.Ser2032Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2125C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7520C>A
  hgvsp: ENSP00000427550.1:p.Ser2507Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*378C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.349C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6136C>A
  hgvsp: ENSP00000467038.1:p.Ser2046Tyr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*222C>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7036C>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser2507Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

18-13124676-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124676
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124676
    reference: chr 18
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.350C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6137C>T
  hgvsp: ENST00000511820.2:c.6137C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*223C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7521C>T
  hgvsp: ENST00000506447.1:c.7521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*379C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5733C>T
  hgvsp: ENST00000325971.8:c.5733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2126C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6096C>T
  hgvsp: ENST00000430049.2:c.6096C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7037C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47199
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser2507Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-13124677-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124677
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124677
    reference: chr 18
allele count: 2
allele frequency: 1.654779831543413e-5
allele num: 120862
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*224G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7038G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6138G>A
  hgvsp: ENSP00000467038.1:p.Ala2047Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6097G>A
  hgvsp: ENSP00000389190.2:p.Ala2033Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5734G>A
  hgvsp: ENSP00000317156.8:p.Ala1912Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.351G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*380G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7522G>A
  hgvsp: ENSP00000427550.1:p.Ala2508Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2127G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6483
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala2508Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

18-13124680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124680
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124680
    reference: chr 18
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*383G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7525G>A
  hgvsp: ENSP00000427550.1:p.Gly2509Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6100G>A
  hgvsp: ENSP00000389190.2:p.Gly2034Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7041G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.354G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2130G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*227G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6141G>A
  hgvsp: ENSP00000467038.1:p.Gly2048Ser
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5737G>A
  hgvsp: ENSP00000317156.8:p.Gly1913Ser
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly2509Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-13124682-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124682
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124682
    reference: chr 18
allele count: 2
allele frequency: 1.655218074981379e-5
allele num: 120830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.356C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6102C>G
  hgvsp: ENST00000430049.2:c.6102C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5739C>G
  hgvsp: ENST00000325971.8:c.5739C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7043C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*385C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6143C>G
  hgvsp: ENST00000511820.2:c.6143C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*229C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7527C>G
  hgvsp: ENST00000506447.1:c.7527C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2132C>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly2509Gly
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

18-13124682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124682
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124682
    reference: chr 18
allele count: 1
allele frequency: 8.276090374906894e-6
allele num: 120830
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5739C>T
  hgvsp: ENST00000325971.8:c.5739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6102C>T
  hgvsp: ENST00000430049.2:c.6102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7527C>T
  hgvsp: ENST00000506447.1:c.7527C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*229C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*385C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6143C>T
  hgvsp: ENST00000511820.2:c.6143C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.356C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7043C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2132C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly2509Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

18-13124693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124693
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124693
    reference: chr 18
allele count: 26
allele frequency: 2.154136771114683e-4
allele num: 120698
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5750C>T
  hgvsp: ENSP00000317156.8:p.Ala1917Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7054C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6113C>T
  hgvsp: ENSP00000389190.2:p.Ala2038Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2143C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.367C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7538C>T
  hgvsp: ENSP00000427550.1:p.Ala2513Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6154C>T
  hgvsp: ENSP00000467038.1:p.Ala2052Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*396C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*240C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26991
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24705
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 1
hgvs: p.Ala2513Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

18-13124701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124701
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124701
    reference: chr 18
allele count: 3
allele frequency: 2.488057324840764e-5
allele num: 120576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6162G>A
  hgvsp: ENSP00000467038.1:p.Val2055Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*404G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6121G>A
  hgvsp: ENSP00000389190.2:p.Val2041Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5758G>A
  hgvsp: ENSP00000317156.8:p.Val1920Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*248G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7546G>A
  hgvsp: ENSP00000427550.1:p.Val2516Ile
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.375G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2151G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7062G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26982
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5183
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val2516Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

18-13124705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124705
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124705
    reference: chr 18
allele count: 1
allele frequency: 8.298617450332775e-6
allele num: 120502
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7550T>C
  hgvsp: ENSP00000427550.1:p.Ile2517Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5762T>C
  hgvsp: ENSP00000317156.8:p.Ile1921Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.379T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*408T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2155T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7066T>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6125T>C
  hgvsp: ENSP00000389190.2:p.Ile2042Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6166T>C
  hgvsp: ENSP00000467038.1:p.Ile2056Thr
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*252T>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26943
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6254
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile2517Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

18-13124709-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124709
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124709
    reference: chr 18
allele count: 1
allele frequency: 8.305233958440609e-6
allele num: 120406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2159A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6170A>G
  hgvsp: ENST00000511820.2:c.6170A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5766A>G
  hgvsp: ENST00000325971.8:c.5766A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7070A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7554A>G
  hgvsp: ENST00000506447.1:c.7554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6129A>G
  hgvsp: ENST00000430049.2:c.6129A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*412A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*256A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.383A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gln2518Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

18-13124714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124714
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124714
    reference: chr 18
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5771A>G
  hgvsp: ENSP00000317156.8:p.Asp1924Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7559A>G
  hgvsp: ENSP00000427550.1:p.Asp2520Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*261A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2164A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6134A>G
  hgvsp: ENSP00000389190.2:p.Asp2045Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7075A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6175A>G
  hgvsp: ENSP00000467038.1:p.Asp2059Gly
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*417A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.388A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp2520Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

18-13124716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124716
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124716
    reference: chr 18
allele count: 3
allele frequency: 2.496671105193076e-5
allele num: 120160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7077G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.390G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6136G>A
  hgvsp: ENSP00000389190.2:p.Glu2046Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6177G>A
  hgvsp: ENSP00000467038.1:p.Glu2060Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7561G>A
  hgvsp: ENSP00000427550.1:p.Glu2521Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*419G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5773G>A
  hgvsp: ENSP00000317156.8:p.Glu1925Lys
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*263G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2166G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24724
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Glu2521Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

18-13124720-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124720
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124720
    reference: chr 18
allele count: 1
allele frequency: 8.330834083108401e-6
allele num: 120036
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7565G>T
  hgvsp: ENSP00000427550.1:p.Gly2522Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6140G>T
  hgvsp: ENSP00000389190.2:p.Gly2047Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6181G>T
  hgvsp: ENSP00000467038.1:p.Gly2061Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*267G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.394G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2170G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5777G>T
  hgvsp: ENSP00000317156.8:p.Gly1926Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7081G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*423G>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly2522Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

18-13124723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124723
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124723
    reference: chr 18
allele count: 1
allele frequency: 8.342510094437214e-6
allele num: 119868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5780A>G
  hgvsp: ENSP00000317156.8:p.Lys1927Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6143A>G
  hgvsp: ENSP00000389190.2:p.Lys2048Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6184A>G
  hgvsp: ENSP00000467038.1:p.Lys2062Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7084A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7568A>G
  hgvsp: ENSP00000427550.1:p.Lys2523Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*426A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*270A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.397A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2173A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26666
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6071
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys2523Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-13124731-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124731
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124731
    reference: chr 18
allele count: 1
allele frequency: 8.387291575804341e-6
allele num: 119228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5788G>C
  hgvsp: ENSP00000317156.8:p.Ala1930Pro
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*278G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.405G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7576G>C
  hgvsp: ENSP00000427550.1:p.Ala2526Pro
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2181G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*434G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6151G>C
  hgvsp: ENSP00000389190.2:p.Ala2051Pro
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7092G>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6192G>C
  hgvsp: ENSP00000467038.1:p.Ala2065Pro
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46935
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala2526Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

18-13124734-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124734
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124734
    reference: chr 18
allele count: 1
allele frequency: 8.418075291265404e-6
allele num: 118792
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7579A>G
  hgvsp: ENSP00000427550.1:p.Ile2527Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5791A>G
  hgvsp: ENSP00000317156.8:p.Ile1931Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*281A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*437A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7095A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6154A>G
  hgvsp: ENSP00000389190.2:p.Ile2052Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.408A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6195A>G
  hgvsp: ENSP00000467038.1:p.Ile2066Val
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2184A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26278
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile2527Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

18-13124737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124737
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124737
    reference: chr 18
allele count: 7
allele frequency: 5.902192242833053e-5
allele num: 118600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*284C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7582C>T
  hgvsp: ENSP00000427550.1:p.Arg2528Ter
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6157C>T
  hgvsp: ENSP00000389190.2:p.Arg2053Ter
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7098C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.411C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5794C>T
  hgvsp: ENSP00000317156.8:p.Arg1932Ter
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6198C>T
  hgvsp: ENSP00000467038.1:p.Arg2067Ter
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*440C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2187C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg2528Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

18-13124738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124738
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124738
    reference: chr 18
allele count: 2
allele frequency: 1.687763713080169e-5
allele num: 118500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*285G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7099G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.412G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6158G>A
  hgvsp: ENSP00000389190.2:p.Arg2053Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6199G>A
  hgvsp: ENSP00000467038.1:p.Arg2067Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*441G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7583G>A
  hgvsp: ENSP00000427550.1:p.Arg2528Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5795G>A
  hgvsp: ENSP00000317156.8:p.Arg1932Gln
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2188G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23945
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg2528Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

18-13124762-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124762
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124762
    reference: chr 18
allele count: 1
allele frequency: 9.10365420679861e-6
allele num: 109846
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7607A>G
  hgvsp: ENSP00000427550.1:p.Lys2536Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.436A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7123A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5819A>G
  hgvsp: ENSP00000317156.8:p.Lys1940Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*465A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2212A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6223A>G
  hgvsp: ENSP00000467038.1:p.Lys2075Arg
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*309A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6182A>G
  hgvsp: ENSP00000389190.2:p.Lys2061Arg
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21102
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys2536Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

18-13124767-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124767
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124767
    reference: chr 18
allele count: 5
allele frequency: 4.649432769202157e-5
allele num: 107540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7128T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7612T>G
  hgvsp: ENSP00000427550.1:p.Ter2538GluextTer7
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5824T>G
  hgvsp: ENSP00000317156.8:p.Ter1942GluextTer7
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.441T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2217T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*470T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*314T>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6187T>G
  hgvsp: ENSP00000389190.2:p.Ter2063GluextTer7
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6228T>G
  hgvsp: ENSP00000467038.1:p.Ter2077GluextTer7
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17595
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ter2538GluextTer7
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

18-13124769-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124769
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124769
    reference: chr 18
allele count: 2
allele frequency: 1.876559890408903e-5
allele num: 106578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2219A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6230A>G
  hgvsp: ENST00000511820.2:c.6230A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6189A>G
  hgvsp: ENST00000430049.2:c.6189A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.443A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*472A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*316A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: stop_retained_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7614A>G
  hgvsp: ENST00000506447.1:c.7614A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_retained_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5826A>G
  hgvsp: ENST00000325971.8:c.5826A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7130A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: stop retained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ter2538Ter
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

18-13124769-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124769
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124769
    reference: chr 18
allele count: 159
allele frequency: 1.491865112875077e-3
allele num: 106578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2219A>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.443A>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7130A>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.6230A>T
  hgvsp: ENSP00000467038.1:p.Ter2077TyrextTer7
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.5826A>T
  hgvsp: ENSP00000317156.8:p.Ter1942TyrextTer7
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.6189A>T
  hgvsp: ENSP00000389190.2:p.Ter2063TyrextTer7
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*472A>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.7614A>T
  hgvsp: ENSP00000427550.1:p.Ter2538TyrextTer7
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*316A>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 18400
  bin: 2.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7199
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16990
  bin: 2.25e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 10726
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14796
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ter2538TyrextTer7
num of homozygotes: 2
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

18-13124773-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124773
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124773
    reference: chr 18
allele count: 1
allele frequency: 9.541620548834014e-6
allele num: 104804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.447G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2223G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*320G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*4G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*476G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*4G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7134G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*4G>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*4G>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15886
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

18-13124775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124775
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124775
    reference: chr 18
allele count: 1
allele frequency: 9.632797749778446e-6
allele num: 103812
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2225A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7136A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*6A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.449A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*478A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*322A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

18-13124778-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124778
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124778
    reference: chr 18
allele count: 1
allele frequency: 9.791442279447762e-6
allele num: 102130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2228C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*9C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*9C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*9C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*481C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*325C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7139C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*9C>T
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.452C>T
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15761
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-13124779-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124779
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124779
    reference: chr 18
allele count: 5
allele frequency: 4.94266508501384e-5
allele num: 101160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2229A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.453A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*482A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*10A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*10A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*326A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*10A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*10A>C
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7140A>C
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP

18-13124779-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124779
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124779
    reference: chr 18
allele count: 1
allele frequency: 9.885330170027678e-6
allele num: 101160
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*10A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*326A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*482A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7140A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2229A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*10A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*10A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.453A>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*10A>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21214
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

18-13124786-TGTAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124786
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124781
    reference: chr 18
allele count: 1
allele frequency: 1.018786421614573e-5
allele num: 98156
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2242_2246delGTAAA
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7153_*7157delGTAAA
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*495_*499delGTAAA
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*23_*27delGTAAA
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.466_470delGTAAA
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*23_*27delGTAAA
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*23_*27delGTAAA
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*23_*27delGTAAA
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*339_*343delGTAAA
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: TGTAAA
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

18-13124787-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124787
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124787
    reference: chr 18
allele count: 2
allele frequency: 2.05368328096441e-5
allele num: 97386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2237G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*18G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*18G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*490G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7148G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*18G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*18G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.461G>A
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

18-13124820-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124820
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124821
    reference: chr 18
allele count: 1
allele frequency: 1.414787357460174e-5
allele num: 70682
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*370dupT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2273dupT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*54dupT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*54dupT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7184dupT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*526dupT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*54dupT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.497dupT
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*54dupT
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9773
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

18-13124820-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13124820
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13124820
    reference: chr 18
allele count: 1
allele frequency: 1.414787357460174e-5
allele num: 70682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000389190
  ensembl transcript: ENST00000430049
  gene symbol: CEP192
  hgvsc: ENST00000430049.2:c.*51C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467297
  ensembl transcript: ENST00000589993
  gene symbol: CEP192
  hgvsc: ENST00000589993.1:c.*367C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000317156
  ensembl transcript: ENST00000325971
  gene symbol: CEP192
  hgvsc: ENST00000325971.8:c.*51C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000513183
  gene symbol: CEP192
  hgvsc: ENST00000513183.1:n.494C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000423147
  ensembl transcript: ENST00000510237
  gene symbol: CEP192
  hgvsc: ENST00000510237.1:c.*523C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000424671
  ensembl transcript: ENST00000513432
  gene symbol: CEP192
  hgvsc: ENST00000513432.1:c.*7181C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000467038
  ensembl transcript: ENST00000511820
  gene symbol: CEP192
  hgvsc: ENST00000511820.2:c.*51C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101639
  ensembl transcript: ENST00000540847
  gene symbol: CEP192
  hgvsc: ENST00000540847.2:n.2270C>G
  variant of: http://identifiers.org/hgnc/25515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000101639
  ensembl protein: ENSP00000427550
  ensembl transcript: ENST00000506447
  gene symbol: CEP192
  hgvsc: ENST00000506447.1:c.*51C>G
  variant of: http://identifiers.org/hgnc/25515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20599
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4830
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-13387673-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387673
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387673
    reference: chr 18
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-49T>G
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-49T>G
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-49T>G
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-49T>G
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5342
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

18-13387674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387674
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387674
    reference: chr 18
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-48C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-48C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-48C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-48C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-48C>T
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4354
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4959
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25354
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4768
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

18-13387678-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387678
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387678
    reference: chr 18
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-44G>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-44G>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-44G>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-44G>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-44G>T
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 81
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9739
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-13387679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387679
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387679
    reference: chr 18
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-43G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-43G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-43G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-43G>A
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4763
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genotype quality: GenotypeQuality
  all individuals: 9800
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

18-13387679-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387679
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387679
    reference: chr 18
allele count: 2
allele frequency: 1.649484536082474e-5
allele num: 121250
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-43G>C
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-43G>C
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-43G>C
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-43G>C
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-43G>C
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5347
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25350
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9800
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

18-13387683-AGC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387683
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387681
    reference: chr 18
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-36_-35delGC
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-36_-35delGC
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-36_-35delGC
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-36_-35delGC
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-36_-35delGC
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9936
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: AGC
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD

18-13387686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387686
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387686
    reference: chr 18
allele count: 2
allele frequency: 1.649321304283287e-5
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-36G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-36G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-36G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-36G>A
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 5348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4756
  bin: 8.25e1
  variant carriers: 0
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: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

18-13387687-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387687
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387687
    reference: chr 18
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-35C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-35C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-35C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-35C>T
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5351
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2863
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 4944
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 10040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

18-13387693-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387693
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387693
    reference: chr 18
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-29T>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-29T>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-29T>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-29T>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-29T>A
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11203
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8618
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
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genotype depth: GenotypeDepth
  all individuals: 731
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 10178
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4759
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

18-13387704-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387704
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387704
    reference: chr 18
allele count: 19
allele frequency: 1.566648526525833e-4
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-18G>C
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-18G>C
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-18G>C
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4381
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4758
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

18-13387708-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387708
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387708
    reference: chr 18
allele count: 27
allele frequency: 2.23428552513985e-4
allele num: 120844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-14G>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-14G>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-14G>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-14G>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-14G>T
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6469
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8361
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8665
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5326
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4736
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

18-13387711-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387711
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387711
    reference: chr 18
allele count: 4
allele frequency: 3.298261816022956e-5
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-11C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-11C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-11C>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-11C>T
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8358
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5363
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

18-13387713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387713
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387713
    reference: chr 18
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.-9G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.-9G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.-9G>A
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4342
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8359
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10259
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

18-13387727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387727
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387727
    reference: chr 18
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.6G>A
  hgvsp: ENST00000361205.4:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.6G>A
  hgvsp: ENST00000586222.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.6G>A
  hgvsp: ENST00000359446.5:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.6G>A
  hgvsp: ENST00000587905.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.6G>A
  hgvsp: ENST00000399848.3:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4757
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro2Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/18-13387732-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387732
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387732
    reference: chr 18
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.11C>A
  hgvsp: ENSP00000465244.1:p.Ala4Asp
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.11C>A
  hgvsp: ENSP00000352420.5:p.Ala4Asp
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.11C>A
  hgvsp: ENSP00000354753.4:p.Ala4Asp
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.11C>A
  hgvsp: ENSP00000382741.2:p.Ala4Asp
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.11C>A
  hgvsp: ENSP00000465573.1:p.Ala4Asp
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5398
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4942
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala4Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

18-13387743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387743
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387743
    reference: chr 18
allele count: 2
allele frequency: 1.648940555692967e-5
allele num: 121290
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.22G>A
  hgvsp: ENSP00000354753.4:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.22G>A
  hgvsp: ENSP00000382741.2:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.22G>A
  hgvsp: ENSP00000465244.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.22G>A
  hgvsp: ENSP00000465573.1:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.22G>A
  hgvsp: ENSP00000352420.5:p.Ala8Thr
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4756
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25209
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala8Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-13387746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387746
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387746
    reference: chr 18
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.25A>G
  hgvsp: ENSP00000465244.1:p.Thr9Ala
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.25A>G
  hgvsp: ENSP00000382741.2:p.Thr9Ala
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.25A>G
  hgvsp: ENSP00000352420.5:p.Thr9Ala
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.25A>G
  hgvsp: ENSP00000354753.4:p.Thr9Ala
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.25A>G
  hgvsp: ENSP00000465573.1:p.Thr9Ala
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25209
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr9Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

18-13387757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387757
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387757
    reference: chr 18
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.36C>T
  hgvsp: ENST00000361205.4:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.36C>T
  hgvsp: ENST00000359446.5:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.36C>T
  hgvsp: ENST00000587905.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.36C>T
  hgvsp: ENST00000586222.1:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.36C>T
  hgvsp: ENST00000399848.3:c.36C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8354
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25206
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2878
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe12Phe
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

18-13387759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387759
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387759
    reference: chr 18
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.38C>T
  hgvsp: ENSP00000465244.1:p.Thr13Ile
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.38C>T
  hgvsp: ENSP00000352420.5:p.Thr13Ile
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.38C>T
  hgvsp: ENSP00000382741.2:p.Thr13Ile
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.38C>T
  hgvsp: ENSP00000465573.1:p.Thr13Ile
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.38C>T
  hgvsp: ENSP00000354753.4:p.Thr13Ile
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr13Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

18-13387762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387762
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387762
    reference: chr 18
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.40+1G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.40+1G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.40+1G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.40+1G>A
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.40+1G>A
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6473
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4930
  bin: 7.75e1
  variant carriers: 0
hgvs: c.40+1G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

18-13387775-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 13387775
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 13387775
    reference: chr 18
allele count: 55
allele frequency: 4.536306951271816e-4
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465573
  ensembl transcript: ENST00000586222
  gene symbol: LDLRAD4
  hgvsc: ENST00000586222.1:c.40+14A>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000354753
  ensembl transcript: ENST00000361205
  gene symbol: LDLRAD4
  hgvsc: ENST00000361205.4:c.40+14A>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000382741
  ensembl transcript: ENST00000399848
  gene symbol: LDLRAD4
  hgvsc: ENST00000399848.3:c.40+14A>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000465244
  ensembl transcript: ENST00000587905
  gene symbol: LDLRAD4
  hgvsc: ENST00000587905.1:c.40+14A>T
  variant of: http://identifiers.org/hgnc/1224
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168675
  ensembl protein: ENSP00000352420
  ensembl transcript: ENST00000359446
  gene symbol: LDLRAD4
  hgvsc: ENST00000359446.5:c.40+14A>T
  variant of: http://identifiers.org/hgnc/1224
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11247
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6471
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4385
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 3378
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 638
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5920
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1857
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1301
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1810
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.063631628932937e-5
allele num: 65282
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10174
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14538
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.767e0

MQ
type: SiteQuality
SIO_000300: 6.079e1

DP
type: SiteQuality
SIO_000300: 1.492515e6

VQSLOD
type: SiteQuality
SIO_000300: 7.62e-1

QD
type: SiteQuality
SIO_000300: 2.926e1

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.419e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 1367
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3339
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2295
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3375
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 94
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2233
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1701
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.896551724137931e-5
allele num: 14500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65272
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 2.83e0

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

VQSLOD
type: SiteQuality
SIO_000300: -6.031e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

DP
type: SiteQuality
SIO_000300: 1.494582e6

GenotypeQuality
all individuals: 326
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27181
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5928
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65236
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 1.514e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.428e0

DP
type: SiteQuality
SIO_000300: 1.499453e6

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.244e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

GenotypeQuality
all individuals: 2825
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5928
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1694
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1330
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3397
bin: 9.75e1
variant carriers: 25

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.452633515236986e-4
allele num: 65236
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.377517072316582e-4
allele num: 11422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

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

African
type: Population
allele count: 4
allele frequency: 3.923876790268786e-4
allele num: 10194
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.514e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-2

DP
type: SiteQuality
SIO_000300: 1.499453e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.428e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.244e1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

GenotypeQuality
all individuals: 28896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1802
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2873
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3363
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2810
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 1.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65246
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.852131012744963e-5
allele num: 14594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.301e1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

FS
type: SiteQuality
SIO_000300: 2.612e0

MQRankSum
type: SiteQuality
SIO_000300: -2.83e-1

DP
type: SiteQuality
SIO_000300: 1.504705e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

GenotypeQuality
all individuals: 6094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31720
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1308
bin: 8.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.76223965377333e-5
allele num: 14788
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.286e0

DP
type: SiteQuality
SIO_000300: 1.521404e6

MQ
type: SiteQuality
SIO_000300: 5.834e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.327e0

QD
type: SiteQuality
SIO_000300: 4.98e0

FS
type: SiteQuality
SIO_000300: 3.947e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 34518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1975
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3374
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1087
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526344709689236e-5
allele num: 65516
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14894
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 1.534e1

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

DP
type: SiteQuality
SIO_000300: 1.535834e6

FS
type: SiteQuality
SIO_000300: 2.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-1

GenotypeQuality
all individuals: 1339
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1845
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1353
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3385
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 630
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1798
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.62778366914104e-5
allele num: 15088
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 9.27e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.391e0

FS
type: SiteQuality
SIO_000300: 3.256e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.76e-1

DP
type: SiteQuality
SIO_000300: 1.56211e6

GenotypeQuality
all individuals: 1562
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 856
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2231
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38207
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520496289989052e-5
allele num: 65768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15382
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.743e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.982e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.05e0

DP
type: SiteQuality
SIO_000300: 1.578007e6

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

VQSLOD
type: SiteQuality
SIO_000300: -2.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.93e-1

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 444
bin: 4.75e1
variant carriers: 30

GenotypeQuality
all individuals: 1155
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 1008
bin: 7.75e1
variant carriers: 85

GenotypeQuality
all individuals: 4732
bin: 6.75e1
variant carriers: 55

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 4

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 21

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 7

GenotypeQuality
all individuals: 433
bin: 5.25e1
variant carriers: 48

GenotypeQuality
all individuals: 503
bin: 2.75e1
variant carriers: 5

GenotypeQuality
all individuals: 13907
bin: 9.75e1
variant carriers: 12894

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 63

GenotypeQuality
all individuals: 501
bin: 8.25e1
variant carriers: 84

GenotypeQuality
all individuals: 200
bin: 8.75e1
variant carriers: 50

GenotypeQuality
all individuals: 1027
bin: 7.25e1
variant carriers: 40

Latino
type: Population
allele count: 944
allele frequency: 8.24022346368715e-2
allele num: 11456
num of homozygotes: 54

African
type: Population
allele count: 739
allele frequency: 7.206943631753462e-2
allele num: 10254
num of homozygotes: 20

East Asian
type: Population
allele count: 2217
allele frequency: 2.582712022367195e-1
allele num: 8584
num of homozygotes: 290

Other
type: Population
allele count: 122
allele frequency: 1.380090497737557e-1
allele num: 884
num of homozygotes: 9

European (Finnish)
type: Population
allele count: 644
allele frequency: 9.799147900182593e-2
allele num: 6572
num of homozygotes: 32

South Asian
type: Population
allele count: 3035
allele frequency: 1.930661577608143e-1
allele num: 15720
num of homozygotes: 307

European (Non-Finnish)
type: Population
allele count: 6820
allele frequency: 1.03584447144593e-1
allele num: 65840
num of homozygotes: 368

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

DP
type: SiteQuality
SIO_000300: 1.715975e6

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-2

QD
type: SiteQuality
SIO_000300: 1.634e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.25e-2

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 629
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45418
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022517757291824e-5
allele num: 66170
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

FS
type: SiteQuality
SIO_000300: 1.546e0

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.259e0

DP
type: SiteQuality
SIO_000300: 1.564094e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
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variant carriers: 0

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

GenotypeQuality
all individuals: 47164
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16378
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.173e1

VQSLOD
type: SiteQuality
SIO_000300: -3.406e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.06e-1

DP
type: SiteQuality
SIO_000300: 1.582919e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

FS
type: SiteQuality
SIO_000300: 2.3481e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 270
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6606
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1357
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.885e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.909e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.798e-1

DP
type: SiteQuality
SIO_000300: 1.585679e6

QD
type: SiteQuality
SIO_000300: 8.449999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.927e0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47177
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

GenotypeQuality
all individuals: 6637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16392
num of homozygotes: 0

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

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

African
type: Population
allele count: 7
allele frequency: 6.781631466770006e-4
allele num: 10322
num of homozygotes: 1

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.595e1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

FS
type: SiteQuality
SIO_000300: 1.744e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.585428e6

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.46e-2

GenotypeQuality
all individuals: 1329
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 47191
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1388
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 9.25e1
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GenotypeQuality
all individuals: 6616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010144185906505e-5
allele num: 66442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.101281269066504e-5
allele num: 16390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.696e0

DP
type: SiteQuality
SIO_000300: 1.58628e6

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 284
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 189
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47385
bin: 6.25e1
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GenotypeQuality
all individuals: 1373
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variant carriers: 0

GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 6625
bin: 6.75e1
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GenotypeQuality
all individuals: 1330
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
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GenotypeQuality
all individuals: 590
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GenotypeQuality
all individuals: 199
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GenotypeQuality
all individuals: 1354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 200
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504528631179851e-5
allele num: 66466
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

FS
type: SiteQuality
SIO_000300: 1.4461e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.188e0

QD
type: SiteQuality
SIO_000300: 9.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.396e0

DP
type: SiteQuality
SIO_000300: 1.585139e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
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GenotypeQuality
all individuals: 224
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 5.25e1
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GenotypeQuality
all individuals: 1366
bin: 7.25e1
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GenotypeQuality
all individuals: 47068
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
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GenotypeQuality
all individuals: 6586
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variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1351
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10332
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

DP
type: SiteQuality
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FS
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SIO_000300: 4.855e0

ReadPosRankSum
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SIO_000300: -2.98e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

ClippingRankSum
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SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 8.29e-1

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
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SIO_000300: 6.95e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

East Asian
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allele count: 35
allele frequency: 4.051863857374392e-3
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 900
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BaseQRankSum
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

Latino
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allele count: 115
allele frequency: 9.989576094510077e-3
allele num: 11512
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.236e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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SIO_000300: -3.44e-1

DP
type: SiteQuality
SIO_000300: 1.587316e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00960062599693e-5
allele num: 66454
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

East Asian
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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: 11516
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.932e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e0

QD
type: SiteQuality
SIO_000300: 1.465e1

MQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

BaseQRankSum
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SIO_000300: -2.838e0

FS
type: SiteQuality
SIO_000300: 7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.583935e6

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.383e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

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

East Asian
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allele num: 8638
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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VQSLOD
type: SiteQuality
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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African
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DP
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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East Asian
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VQSLOD
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FS
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Latino
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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South Asian
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QD
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.45e-1

FS
type: SiteQuality
SIO_000300: 6.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e-1

DP
type: SiteQuality
SIO_000300: 1.583591e6

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: 25

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 284
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.617072582589824e-4
allele num: 66352
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.740341106856944e-4
allele num: 11492
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.581361e6

VQSLOD
type: SiteQuality
SIO_000300: 4.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.13e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

QD
type: SiteQuality
SIO_000300: 1.263e1

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.017410458344649e-5
allele num: 66282
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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South Asian
type: Population
allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.417e0

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.579122e6

QD
type: SiteQuality
SIO_000300: 1.057e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 1.576731e6

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.387e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 114
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 1.575416e6

QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
SIO_000300: -1.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.513317191283293e-5
allele num: 66080
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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FS
type: SiteQuality
SIO_000300: 1.029e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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ClippingRankSum
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.919e1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 2.910925674364448e-4
allele num: 10306
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66010
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Other
type: Population
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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DP
type: SiteQuality
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MQRankSum
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.871e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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Other
type: Population
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South Asian
type: Population
allele count: 1
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allele num: 16296
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65934
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

African
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European (Finnish)
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allele count: 0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.518879674352198e-5
allele num: 65838
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Other
type: Population
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele num: 16272
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FS
type: SiteQuality
SIO_000300: 9.74e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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DP
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528631263566603e-5
allele num: 65418
num of homozygotes: 0

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: 10214
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.719e0

BaseQRankSum
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SIO_000300: -2.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

QD
type: SiteQuality
SIO_000300: 1.16e1

FS
type: SiteQuality
SIO_000300: 5.847e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.557125e6

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.535107918086642e-5
allele num: 65142
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16164
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

DP
type: SiteQuality
SIO_000300: 1.549238e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

InbreedingCoeff
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SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.202e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.076326957377452e-4
allele num: 65036
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10142
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

QD
type: SiteQuality
SIO_000300: 1.163e1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.5476e6

FS
type: SiteQuality
SIO_000300: 1.768e0

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.078249091916518e-5
allele num: 64972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16134
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: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.211e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 4.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

DP
type: SiteQuality
SIO_000300: 1.545383e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7986
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.679148335963999e-5
allele num: 59554
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.624431448992852e-4
allele num: 6156
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.872143765247568e-5
allele num: 58206
num of homozygotes: 0

East Asian
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South Asian
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57668
num of homozygotes: 0

Latino
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allele frequency: 1.956181533646322e-4
allele num: 10224
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.73406395227856e-5
allele num: 57668
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.055052076288381e-2
allele num: 14786
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Other
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allele frequency: 1.222493887530562e-3
allele num: 818
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QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1291
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.764913519237557e-5
allele num: 56660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14516
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.675e1

QD
type: SiteQuality
SIO_000300: 1.555e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
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SIO_000300: -2.563e0

DP
type: SiteQuality
SIO_000300: 1.263897e6

VQSLOD
type: SiteQuality
SIO_000300: -9.972e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.208e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.781959442603086e-5
allele num: 56118
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
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SIO_000300: 1.235062e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.378e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.477e1

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 7.051191651389085e-5
allele num: 14182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5946
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.228e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.177e0

QD
type: SiteQuality
SIO_000300: 4.95e0

DP
type: SiteQuality
SIO_000300: 1.193576e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.03e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.845564074479737e-4
allele num: 7304
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.34e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 1.728e0

DP
type: SiteQuality
SIO_000300: 1.165731e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14034
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.82989313424096e-5
allele num: 54648
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 1.165731e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 1.728e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

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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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: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.886721255801668e-5
allele num: 53002
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13666
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5776
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
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FS
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MQ
type: SiteQuality
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13570
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.806188863091387e-5
allele num: 52546
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.670940170940171e-5
allele num: 37440
num of homozygotes: 0

Other
type: Population
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South Asian
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European (Finnish)
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African
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East Asian
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Latino
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
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MQ
type: SiteQuality
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QD
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ClippingRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.670940170940171e-5
allele num: 37440
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 4696
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-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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variant carriers: 0

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

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

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

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

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.129e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

FS
type: SiteQuality
SIO_000300: 3.399e0

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 2.558971e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

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

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 4.744e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 2.559209e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-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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variant carriers: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

FS
type: SiteQuality
SIO_000300: 5.299e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e0

QD
type: SiteQuality
SIO_000300: 1.021e1

DP
type: SiteQuality
SIO_000300: 2.560852e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.637e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

FS
type: SiteQuality
SIO_000300: 1.669e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

QD
type: SiteQuality
SIO_000300: 1.466e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.74e-1

DP
type: SiteQuality
SIO_000300: 2.561113e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 2
allele frequency: 1.21197430614471e-4
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

Other
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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: 6614
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.669e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

QD
type: SiteQuality
SIO_000300: 1.466e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
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allele num: 16504
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.44e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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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bin: 9.75e1
variant carriers: 2

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

East Asian
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South Asian
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Other
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
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DP
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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African
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South Asian
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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FS
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MQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 18

East Asian
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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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allele num: 6614
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Other
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South Asian
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allele frequency: 1.090380421613763e-3
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QD
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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MQ
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DP
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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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Latino
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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allele num: 66400
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East Asian
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African
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allele frequency: 5.845674201091193e-4
allele num: 10264
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Other
type: Population
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European (Finnish)
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FS
type: SiteQuality
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DP
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQ
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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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

African
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allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.21e-1

QD
type: SiteQuality
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DP
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 2.552857e6

FS
type: SiteQuality
SIO_000300: 2.185e0

VQSLOD
type: SiteQuality
SIO_000300: -7.018e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.688e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 6.42e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 1.385e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.357e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

DP
type: SiteQuality
SIO_000300: 2.551423e6

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 10376
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
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: 10400
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.166e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.558e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 2.551402e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

GenotypeQuality
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bin: 5.25e1
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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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

Latino
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allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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: 66636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

DP
type: SiteQuality
SIO_000300: 2.551549e6

VQSLOD
type: SiteQuality
SIO_000300: -1.593e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.282e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

FS
type: SiteQuality
SIO_000300: 3.191e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

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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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66634
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.87e0

MQRankSum
type: SiteQuality
SIO_000300: 6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.54e-1

FS
type: SiteQuality
SIO_000300: 3.907e0

VQSLOD
type: SiteQuality
SIO_000300: -4.78e-2

DP
type: SiteQuality
SIO_000300: 2.551398e6

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 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: 16510
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.400000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.455e0

MQ
type: SiteQuality
SIO_000300: 5.892e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.672e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 2.57e-1

DP
type: SiteQuality
SIO_000300: 2.550802e6

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 10396
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 1.693e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.161e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.93e-1

DP
type: SiteQuality
SIO_000300: 2.550823e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002101471029721e-5
allele num: 66620
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 2.550544e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

FS
type: SiteQuality
SIO_000300: 6.363e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.818e0

MQ
type: SiteQuality
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