http://identifiers.org/exac.variant/17-63822312-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822312
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822312
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25610G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.101G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25610G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.106G>T
  hgvsp: ENSP00000320592.5:p.Ala36Ser
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25610G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25610G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25610G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25610G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25610G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25610G>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37333
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala36Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-63822318-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822318
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822318
    reference: chr 17
allele count: 31
allele frequency: 2.553331686022568e-4
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25604G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25604G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.100G>C
  hgvsp: ENSP00000320592.5:p.Glu34Gln
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25604G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.95G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25604G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25604G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25604G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25604G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25604G>C
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2166
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37335
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu34Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

17-63822319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822319
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822319
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25603A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25603A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25603A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25603A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25603A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.99A>G
  hgvsp: ENST00000317442.8:c.99A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25603A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.94A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25603A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25603A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr33Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

17-63822323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822323
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822323
    reference: chr 17
allele count: 4
allele frequency: 3.294675803900896e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25599A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25599A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25599A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.95A>G
  hgvsp: ENSP00000320592.5:p.Lys32Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25599A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25599A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25599A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25599A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25599A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.90A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys32Arg
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

17-63822323-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822323
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822323
    reference: chr 17
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25599A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25599A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25599A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25599A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25599A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.95A>C
  hgvsp: ENSP00000320592.5:p.Lys32Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25599A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.90A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25599A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25599A>C
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys32Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

17-63822329-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822329
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822329
    reference: chr 17
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25593T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25593T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25593T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.89T>A
  hgvsp: ENSP00000320592.5:p.Val30Asp
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25593T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25593T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25593T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.84T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25593T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25593T>A
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val30Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/17-63822330-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822330
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822330
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.83G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25592G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25592G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25592G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25592G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.88G>T
  hgvsp: ENSP00000320592.5:p.Val30Phe
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25592G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25592G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25592G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25592G>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val30Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

17-63822331-A-ATGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822331
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822334
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: ATGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.81_82insACA
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25590_376+25591insACA
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25590_2394+25591insACA
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.86_87insACA
  hgvsp: ENSP00000320592.5:p.Asn29delinsLysHis
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25590_421+25591insACA
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25590_1299+25591insACA
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25590_376+25591insACA
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25590_266+25591insACA
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25590_2394+25591insACA
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25590_2268+25591insACA
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: protein altering
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54687
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn29delinsLysHis
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

17-63822331-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822331
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822331
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25591T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25591T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25591T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25591T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25591T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.82T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.87T>C
  hgvsp: ENST00000317442.8:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25591T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25591T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25591T>C
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn29Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

17-63822341-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822341
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822341
    reference: chr 17
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.77A>T
  hgvsp: ENSP00000320592.5:p.Glu26Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25581A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.72A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25581A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25581A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25581A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25581A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25581A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25581A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25581A>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2521
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu26Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

17-63822345-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822345
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822345
    reference: chr 17
allele count: 9
allele frequency: 7.413020558777017e-5
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25577G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25577G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25577G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.73G>C
  hgvsp: ENSP00000320592.5:p.Glu25Gln
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25577G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25577G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.68G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25577G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25577G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25577G>C
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37329
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu25Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

17-63822347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822347
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822347
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25575G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.71G>A
  hgvsp: ENSP00000320592.5:p.Arg24Lys
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25575G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25575G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25575G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.66G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25575G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25575G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25575G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25575G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37329
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg24Lys
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ

17-63822356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822356
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822356
    reference: chr 17
allele count: 5
allele frequency: 4.118480445454845e-5
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.57T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25566T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25566T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25566T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25566T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25566T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25566T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25566T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.62T>C
  hgvsp: ENSP00000320592.5:p.Ile21Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25566T>C
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37330
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile21Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

17-63822357-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822357
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822357
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.61A>T
  hgvsp: ENSP00000320592.5:p.Ile21Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.56A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25565A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25565A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25565A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25565A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25565A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25565A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25565A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25565A>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39211
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile21Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

17-63822357-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822357
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822357
    reference: chr 17
allele count: 27461
allele frequency: 2.262100892945402e-1
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25565A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.61A>G
  hgvsp: ENSP00000320592.5:p.Ile21Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25565A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25565A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.56A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25565A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25565A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25565A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25565A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25565A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 7.75e1
  variant carriers: 194
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 8.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 6.25e1
  variant carriers: 110
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 3.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 7.25e1
  variant carriers: 182
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 8.75e1
  variant carriers: 249
genotype depth: GenotypeDepth
  all individuals: 39211
  bin: 9.75e1
  variant carriers: 22681
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 9.25e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 6.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile21Val
num of homozygotes: 3243
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-63822365-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822365
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822365
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25557T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25557T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25557T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25557T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25557T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.53T>A
  hgvsp: ENSP00000320592.5:p.Leu18Gln
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25557T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.48T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25557T>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25557T>A
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27402
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu18Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-63822367-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822367
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822367
    reference: chr 17
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25555C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.51C>G
  hgvsp: ENST00000317442.8:c.51C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25555C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25555C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.46C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25555C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25555C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25555C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25555C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25555C>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27400
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala17Ala
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

17-63822372-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822372
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822372
    reference: chr 17
allele count: 8
allele frequency: 6.589351607801793e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25550C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25550C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25550C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.41C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25550C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.46C>G
  hgvsp: ENSP00000320592.5:p.Gln16Glu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25550C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25550C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25550C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25550C>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27401
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln16Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

17-63822384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822384
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822384
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25538G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25538G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25538G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.34G>A
  hgvsp: ENSP00000320592.5:p.Ala12Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.29G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25538G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25538G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25538G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25538G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25538G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala12Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-63822389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822389
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822389
    reference: chr 17
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25533C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25533C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.24C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25533C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25533C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25533C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25533C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.29C>T
  hgvsp: ENSP00000320592.5:p.Pro10Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25533C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25533C>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro10Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

17-63822394-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822394
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822394
    reference: chr 17
allele count: 3
allele frequency: 2.471006852925672e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25528C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25528C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25528C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.24C>T
  hgvsp: ENST00000317442.8:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25528C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.19C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25528C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25528C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25528C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25528C>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27396
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2605
  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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp8Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

17-63822396-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822396
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822396
    reference: chr 17
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25526G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25526G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.17G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25526G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25526G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25526G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.22G>A
  hgvsp: ENSP00000320592.5:p.Asp8Asn
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25526G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25526G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25526G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp8Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-63822409-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822409
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822409
    reference: chr 17
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25513T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25513T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000578878
  gene symbol: CEP112
  hgvsc: ENST00000578878.1:n.4T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25513T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25513T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25513T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25513T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.9T>C
  hgvsp: ENST00000317442.8:c.9T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25513T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25513T>C
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4055
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27395
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala3Ala
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

17-63822419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822419
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822419
    reference: chr 17
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25503A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25503A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25503A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-2A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25503A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25503A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25503A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25503A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25503A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27395
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-63822421-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822421
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822421
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25501G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25501G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-4G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25501G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25501G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25501G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25501G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25501G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25501G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27394
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

17-63822422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822422
    reference: chr 17
allele count: 50
allele frequency: 4.118819711023609e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25500C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-5C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25500C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25500C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25500C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25500C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25500C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25500C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25500C>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27394
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 2
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum

17-63822422-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822422
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822422
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25500C>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25500C>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25500C>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25500C>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25500C>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25500C>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-5C>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25500C>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25500C>A
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27394
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4056
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-63822423-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822423
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822423
    reference: chr 17
allele count: 98
allele frequency: 8.073152648488343e-4
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25499A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-6A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25499A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25499A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25499A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25499A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25499A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25499A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25499A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2605
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3235
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4057
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27379
  bin: 9.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 4277
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/17-63822426-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822426
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822427
    reference: chr 17
allele count: 5
allele frequency: 4.119023297195769e-5
allele num: 121388
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25495dupG
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25495dupG
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25495dupG
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25495dupG
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25495dupG
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25495dupG
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25495dupG
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-10dupG
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25495dupG
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27341
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-63822428-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822428
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822428
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25494G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25494G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25494G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25494G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25494G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25494G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25494G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-11G>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25494G>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2170
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27338
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

17-63822454-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822454
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822454
    reference: chr 17
allele count: 59
allele frequency: 4.860847929608331e-4
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25468A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25468A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25468A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25468A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25468A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-37A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25468A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25468A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25468A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27340
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

17-63822454-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822454
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822454
    reference: chr 17
allele count: 7
allele frequency: 5.76710771309463e-5
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25468A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25468A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25468A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-37A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25468A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25468A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25468A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25468A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25468A>C
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27340
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4065
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-63822457-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822457
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25465C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25465C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-40C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25465C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25465C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25465C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25465C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25465C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25465C>T
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27321
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-63822457-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822457
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822457
    reference: chr 17
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25465C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25465C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-40C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25465C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25465C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25465C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25465C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25465C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25465C>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3243
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27321
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

17-63822462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822462
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822462
    reference: chr 17
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25460G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-45G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25460G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25460G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25460G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25460G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25460G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25460G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25460G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27320
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

17-63822467-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63822467
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63822467
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000320592
  ensembl transcript: ENST00000317442
  gene symbol: CEP112
  hgvsc: ENST00000317442.8:c.-50A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+25455A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+25455A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+25455A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+25455A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+25455A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+25455A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+25455A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+25455A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27320
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4307
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

17-63847874-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847874
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847874
    reference: chr 17
allele count: 1
allele frequency: 8.798324798958279e-6
allele num: 113658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+48A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+48A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+48A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+48A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+48A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+48A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+48A>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+48A>C
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

17-63847879-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847879
    reference: chr 17
allele count: 1
allele frequency: 8.782869890565442e-6
allele num: 113858
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+43T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+43T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+43T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+43T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+43T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+43T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+43T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+43T>C
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-63847883-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847883
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847883
    reference: chr 17
allele count: 2
allele frequency: 1.754693805930865e-5
allele num: 113980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+39T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+39T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+39T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+39T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+39T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+39T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+39T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+39T>C
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9411
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3081
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

17-63847895-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847895
    reference: chr 17
allele count: 1
allele frequency: 8.708222303498963e-6
allele num: 114834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+27A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+27A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+27A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+27A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+27A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+27A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+27A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+27A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26468
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-63847896-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847896
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847896
    reference: chr 17
allele count: 1
allele frequency: 8.707918981521795e-6
allele num: 114838
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+26T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+26T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+26T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+26T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+26T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+26T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+26T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+26T>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-63847898-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847899
    reference: chr 17
allele count: 3
allele frequency: 2.609376359050187e-5
allele num: 114970
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+23dupT
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+23dupT
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+23dupT
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+23dupT
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+23dupT
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+23dupT
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+23dupT
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+23dupT
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

17-63847910-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847910
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847910
    reference: chr 17
allele count: 3
allele frequency: 2.575018883471812e-5
allele num: 116504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+12A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+12A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+12A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+12A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+12A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+12A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+12A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+12A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-63847913-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847913
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847913
    reference: chr 17
allele count: 1
allele frequency: 8.540293102859289e-6
allele num: 117092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.266+9T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2394+9T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2394+9T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.376+9T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.421+9T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2268+9T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1299+9T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.376+9T>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2060
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

17-63847928-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847928
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847928
    reference: chr 17
allele count: 16
allele frequency: 1.331713082416393e-4
allele num: 120146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.370G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.415G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2388G>A
  hgvsp: ENST00000535342.2:c.2388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2388G>A
  hgvsp: ENST00000392769.2:c.2388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2262G>A
  hgvsp: ENST00000537949.1:c.2262G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.370G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.260G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1293G>A
  hgvsp: ENST00000541355.1:c.1293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13689
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8630
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu796Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-63847930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847930
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847930
    reference: chr 17
allele count: 1
allele frequency: 8.306061763875276e-6
allele num: 120394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2386C>G
  hgvsp: ENSP00000442784.2:p.Leu796Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.368C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1291C>G
  hgvsp: ENSP00000443711.1:p.Leu431Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.258C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.368C>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2260C>G
  hgvsp: ENSP00000440775.1:p.Leu754Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2386C>G
  hgvsp: ENSP00000376522.2:p.Leu796Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.413C>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu796Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/17-63847946-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847946
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847946
    reference: chr 17
allele count: 1
allele frequency: 8.256683785524381e-6
allele num: 121114
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2370T>G
  hgvsp: ENST00000392769.2:c.2370T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2370T>G
  hgvsp: ENST00000535342.2:c.2370T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2244T>G
  hgvsp: ENST00000537949.1:c.2244T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.397T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.242T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.352T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.352T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1275T>G
  hgvsp: ENST00000541355.1:c.1275T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14065
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala790Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

17-63847956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847956
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847956
    reference: chr 17
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2234C>T
  hgvsp: ENSP00000440775.1:p.Thr745Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2360C>T
  hgvsp: ENSP00000376522.2:p.Thr787Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2360C>T
  hgvsp: ENSP00000442784.2:p.Thr787Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.342C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1265C>T
  hgvsp: ENSP00000443711.1:p.Thr422Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.232C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.342C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.387C>T
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr787Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

17-63847964-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847964
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847964
    reference: chr 17
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2352G>A
  hgvsp: ENST00000535342.2:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.224G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.334G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2226G>A
  hgvsp: ENST00000537949.1:c.2226G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.379G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1257G>A
  hgvsp: ENST00000541355.1:c.1257G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2352G>A
  hgvsp: ENST00000392769.2:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.334G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu784Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

17-63847967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847967
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847967
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2349G>A
  hgvsp: ENST00000392769.2:c.2349G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.331G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.376G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.331G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2223G>A
  hgvsp: ENST00000537949.1:c.2223G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2349G>A
  hgvsp: ENST00000535342.2:c.2349G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.221G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1254G>A
  hgvsp: ENST00000541355.1:c.1254G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu783Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

17-63847970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847970
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847970
    reference: chr 17
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2346A>G
  hgvsp: ENSP00000376522.2:p.Ile782Met
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.218A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1251A>G
  hgvsp: ENSP00000443711.1:p.Ile417Met
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2346A>G
  hgvsp: ENSP00000442784.2:p.Ile782Met
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.328A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.373A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2220A>G
  hgvsp: ENSP00000440775.1:p.Ile740Met
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.328A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile782Met
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-63847978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847978
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847978
    reference: chr 17
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2338A>G
  hgvsp: ENSP00000442784.2:p.Met780Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2338A>G
  hgvsp: ENSP00000376522.2:p.Met780Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.365A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2212A>G
  hgvsp: ENSP00000440775.1:p.Met738Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1243A>G
  hgvsp: ENSP00000443711.1:p.Met415Val
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.320A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.210A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.320A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met780Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-63847986-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847986
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847986
    reference: chr 17
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.312C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2330C>T
  hgvsp: ENSP00000376522.2:p.Ser777Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.202C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.574C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.312C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2204C>T
  hgvsp: ENSP00000440775.1:p.Ser735Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.357C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2330C>T
  hgvsp: ENSP00000442784.2:p.Ser777Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1235C>T
  hgvsp: ENSP00000443711.1:p.Ser412Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.571C>T
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser777Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

17-63847993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63847993
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63847993
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.305G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.195G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2323G>A
  hgvsp: ENSP00000442784.2:p.Ala775Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2323G>A
  hgvsp: ENSP00000376522.2:p.Ala775Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.564G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1228G>A
  hgvsp: ENSP00000443711.1:p.Ala410Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2197G>A
  hgvsp: ENSP00000440775.1:p.Ala733Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.350G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.305G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.567G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala775Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-63848002-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848002
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848002
    reference: chr 17
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.555A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1219A>T
  hgvsp: ENSP00000443711.1:p.Lys407Ter
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.186A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2314A>T
  hgvsp: ENSP00000442784.2:p.Lys772Ter
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.341A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.558A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2314A>T
  hgvsp: ENSP00000376522.2:p.Lys772Ter
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2188A>T
  hgvsp: ENSP00000440775.1:p.Lys730Ter
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.296A>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.296A>T
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys772Ter
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

17-63848008-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848008
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1213G>C
  hgvsp: ENSP00000443711.1:p.Val405Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2308G>C
  hgvsp: ENSP00000376522.2:p.Val770Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.335G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.549G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.180G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.290G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.290G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2182G>C
  hgvsp: ENSP00000440775.1:p.Val728Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2308G>C
  hgvsp: ENSP00000442784.2:p.Val770Leu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.552G>C
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val770Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

17-63848008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848008
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848008
    reference: chr 17
allele count: 10
allele frequency: 8.238182327451271e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.290G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1213G>A
  hgvsp: ENSP00000443711.1:p.Val405Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2308G>A
  hgvsp: ENSP00000376522.2:p.Val770Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.335G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.180G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.290G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2182G>A
  hgvsp: ENSP00000440775.1:p.Val728Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2308G>A
  hgvsp: ENSP00000442784.2:p.Val770Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.552G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.549G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 44026
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val770Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

17-63848009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848009
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848009
    reference: chr 17
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.289C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2307C>T
  hgvsp: ENST00000392769.2:c.2307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.179C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.289C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2307C>T
  hgvsp: ENST00000535342.2:c.2307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.334C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1212C>T
  hgvsp: ENST00000541355.1:c.1212C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2181C>T
  hgvsp: ENST00000537949.1:c.2181C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.548C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.551C>T
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44031
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val769Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD

17-63848013-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848013
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848013
    reference: chr 17
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2177T>C
  hgvsp: ENSP00000440775.1:p.Ile726Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1208T>C
  hgvsp: ENSP00000443711.1:p.Ile403Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2303T>C
  hgvsp: ENSP00000376522.2:p.Ile768Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.330T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2303T>C
  hgvsp: ENSP00000442784.2:p.Ile768Thr
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.285T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.175T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.544T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.285T>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.547T>C
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13771
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile768Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

17-63848015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848015
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848015
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.283G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1206G>A
  hgvsp: ENST00000541355.1:c.1206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2301G>A
  hgvsp: ENST00000392769.2:c.2301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.328G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.542G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2175G>A
  hgvsp: ENST00000537949.1:c.2175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.173G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2301G>A
  hgvsp: ENST00000535342.2:c.2301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.283G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.545G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu767Glu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-63848027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848027
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848027
    reference: chr 17
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.530A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.533A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1194A>G
  hgvsp: ENST00000541355.1:c.1194A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.161A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.316A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.271A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2289A>G
  hgvsp: ENST00000392769.2:c.2289A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2163A>G
  hgvsp: ENST00000537949.1:c.2163A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2289A>G
  hgvsp: ENST00000535342.2:c.2289A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.271A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr763Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-63848037-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848037
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848037
    reference: chr 17
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2279A>G
  hgvsp: ENSP00000376522.2:p.Gln760Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.520A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2279A>G
  hgvsp: ENSP00000442784.2:p.Gln760Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.261A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.261A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.523A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2153A>G
  hgvsp: ENSP00000440775.1:p.Gln718Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1184A>G
  hgvsp: ENSP00000443711.1:p.Gln395Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.306A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.151A>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13772
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln760Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-63848041-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848041
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848041
    reference: chr 17
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.519A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2275A>G
  hgvsp: ENSP00000442784.2:p.Lys759Glu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2149A>G
  hgvsp: ENSP00000440775.1:p.Lys717Glu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.302A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.147A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.257A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2275A>G
  hgvsp: ENSP00000376522.2:p.Lys759Glu
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.257A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.516A>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1180A>G
  hgvsp: ENSP00000443711.1:p.Lys394Glu
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys759Glu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

17-63848045-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848045
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848045
    reference: chr 17
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.515G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.512G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.253G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.253G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1176G>C
  hgvsp: ENSP00000443711.1:p.Glu392Asp
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2271G>C
  hgvsp: ENSP00000376522.2:p.Glu757Asp
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.298G>C
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2271G>C
  hgvsp: ENSP00000442784.2:p.Glu757Asp
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2145G>C
  hgvsp: ENSP00000440775.1:p.Glu715Asp
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.143G>C
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu757Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-63848045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848045
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848045
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.512G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.298G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.143G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.253G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1176G>A
  hgvsp: ENST00000541355.1:c.1176G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2271G>A
  hgvsp: ENST00000535342.2:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.515G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2271G>A
  hgvsp: ENST00000392769.2:c.2271G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.253G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2145G>A
  hgvsp: ENST00000537949.1:c.2145G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu757Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

17-63848052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848052
    reference: chr 17
allele count: 9
allele frequency: 7.414608426290554e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.505G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2264G>A
  hgvsp: ENSP00000442784.2:p.Arg755His
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1169G>A
  hgvsp: ENSP00000443711.1:p.Arg390His
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2138G>A
  hgvsp: ENSP00000440775.1:p.Arg713His
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2264G>A
  hgvsp: ENSP00000376522.2:p.Arg755His
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.291G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.136G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.508G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.246G>A
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.246G>A
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg755His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

17-63848052-CGAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848049
    reference: chr 17
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.502_504delTTC
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2261_2263delTTC
  hgvsp: ENSP00000376522.2:p.Leu754del
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2135_2137delTTC
  hgvsp: ENSP00000440775.1:p.Leu712del
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1166_1168delTTC
  hgvsp: ENSP00000443711.1:p.Leu389del
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.288_290delTTC
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.505_507delTTC
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.243_245delTTC
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2261_2263delTTC
  hgvsp: ENSP00000442784.2:p.Leu754del
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.133_135delTTC
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.243_245delTTC
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27774
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu754del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
reference allele: CGAA
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-63848053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848053
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848053
    reference: chr 17
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2263C>T
  hgvsp: ENSP00000442784.2:p.Arg755Cys
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.135C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1168C>T
  hgvsp: ENSP00000443711.1:p.Arg390Cys
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.245C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2137C>T
  hgvsp: ENSP00000440775.1:p.Arg713Cys
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.507C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2263C>T
  hgvsp: ENSP00000376522.2:p.Arg755Cys
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.245C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.290C>T
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.504C>T
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44013
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg755Cys
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-63848058-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848058
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848058
    reference: chr 17
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000443711
  ensembl transcript: ENST00000541355
  gene symbol: CEP112
  hgvsc: ENST00000541355.1:c.1163T>G
  hgvsp: ENSP00000443711.1:p.Leu388Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2258T>G
  hgvsp: ENSP00000376522.2:p.Leu753Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584987
  gene symbol: CEP112
  hgvsc: ENST00000584987.1:n.499T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000584627
  gene symbol: CEP112
  hgvsc: ENST00000584627.1:n.502T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580694
  gene symbol: CEP112
  hgvsc: ENST00000580694.1:n.285T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000580482
  gene symbol: CEP112
  hgvsc: ENST00000580482.1:n.240T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000442784
  ensembl transcript: ENST00000535342
  gene symbol: CEP112
  hgvsc: ENST00000535342.2:c.2258T>G
  hgvsp: ENSP00000442784.2:p.Leu753Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2132T>G
  hgvsp: ENSP00000440775.1:p.Leu711Arg
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582795
  gene symbol: CEP112
  hgvsc: ENST00000582795.1:n.130T>G
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000154240
  ensembl transcript: ENST00000582861
  gene symbol: CEP112
  hgvsc: ENST00000582861.1:n.240T>G
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 13774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu753Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

17-63848065-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 63848065
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 63848065
    reference: chr 17
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000440775
  ensembl transcript: ENST00000537949
  gene symbol: CEP112
  hgvsc: ENST00000537949.1:c.2125C>A
  hgvsp: ENSP00000440775.1:p.Leu709Ile
  variant of: http://identifiers.org/hgnc/28514
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000154240
  ensembl protein: ENSP00000376522
  ensembl transcript: ENST00000392769
  gene symbol: CEP112
  hgvsc: ENST00000392769.2:c.2251C>A
  hgvsp: ENSP00000376522.2:p.Leu751Ile
  variant of: http://identifiers.org/hgnc/28514
canonical: true
consequence: missense
filter: PASS
hgvs: p.Leu751Ile
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2237
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.508e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.032999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 8.285734e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeQuality
all individuals: 977
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54689
bin: 9.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 30
allele frequency: 2.882952142994426e-3
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 8.286546e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

QD
type: SiteQuality
SIO_000300: 1.557e1

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.81e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: -4.395e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.513e0

FS
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.373e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

DP
type: SiteQuality
SIO_000300: 8.283809e6

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54687
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e0

DP
type: SiteQuality
SIO_000300: 8.283917e6

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 782
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variant carriers: 0

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

GenotypeQuality
all individuals: 54687
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 529
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 4.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

DP
type: SiteQuality
SIO_000300: 8.283917e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 529
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 974
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 54687
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.796e1

VQSLOD
type: SiteQuality
SIO_000300: -1.768e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.857e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 8.283884e6

MQRankSum
type: SiteQuality
SIO_000300: -1.31e1

FS
type: SiteQuality
SIO_000300: 1.746e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 4.894e1

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 654
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 782
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

QD
type: SiteQuality
SIO_000300: 1.796e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.646e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e0

FS
type: SiteQuality
SIO_000300: 1.106e0

DP
type: SiteQuality
SIO_000300: 8.283875e6

MQ
type: SiteQuality
SIO_000300: 4.9e1

VQSLOD
type: SiteQuality
SIO_000300: -1.815e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.343e1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 481
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 527
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: -1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.91e1

FS
type: SiteQuality
SIO_000300: 1.112e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

DP
type: SiteQuality
SIO_000300: 8.283902e6

VQSLOD
type: SiteQuality
SIO_000300: -3.658e0

QD
type: SiteQuality
SIO_000300: 1.731e1

GenotypeQuality
all individuals: 54687
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2239
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 976
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.259e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 4.91e1

FS
type: SiteQuality
SIO_000300: 1.112e0

VQSLOD
type: SiteQuality
SIO_000300: -3.658e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.731e1

DP
type: SiteQuality
SIO_000300: 8.283902e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 784
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 8.284032e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 2.457e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.084e0

GenotypeQuality
all individuals: 54691
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 975
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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: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.776049766718507e-4
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.42e-1

FS
type: SiteQuality
SIO_000300: 1.093e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.463e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.067e0

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

DP
type: SiteQuality
SIO_000300: 8.283766e6

MQ
type: SiteQuality
SIO_000300: 5.96e1

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

GenotypeQuality
all individuals: 653
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 786
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 349
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variant carriers: 0

GenotypeQuality
all individuals: 54690
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variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.588e0

DP
type: SiteQuality
SIO_000300: 8.283809e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.36e-1

FS
type: SiteQuality
SIO_000300: 2.445e0

QD
type: SiteQuality
SIO_000300: 1.329e1

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 972
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variant carriers: 0

GenotypeQuality
all individuals: 54693
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 786
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e0

FS
type: SiteQuality
SIO_000300: 1.754e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

DP
type: SiteQuality
SIO_000300: 8.28386e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56930
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variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 472
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GenotypeQuality
all individuals: 245
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GenotypeQuality
all individuals: 421
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variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

QD
type: SiteQuality
SIO_000300: 1.717e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

DP
type: SiteQuality
SIO_000300: 9.308035e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

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

GenotypeQuality
all individuals: 56930
bin: 9.75e1
variant carriers: 24215

GenotypeQuality
all individuals: 597
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variant carriers: 1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 421
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GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1348
bin: 6.25e1
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 472
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variant carriers: 1

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 321
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1100
allele frequency: 1.271382339343504e-1
allele num: 8652
num of homozygotes: 81

African
type: Population
allele count: 2511
allele frequency: 2.413030943686335e-1
allele num: 10406
num of homozygotes: 294

European (Finnish)
type: Population
allele count: 986
allele frequency: 1.49077713940127e-1
allele num: 6614
num of homozygotes: 78

Other
type: Population
allele count: 194
allele frequency: 2.136563876651982e-1
allele num: 908
num of homozygotes: 18

Latino
type: Population
allele count: 2391
allele frequency: 2.067623659633345e-1
allele num: 11564
num of homozygotes: 246

European (Non-Finnish)
type: Population
allele count: 16059
allele frequency: 2.406203176505844e-1
allele num: 66740
num of homozygotes: 1971

South Asian
type: Population
allele count: 4220
allele frequency: 2.555717054263566e-1
allele num: 16512
num of homozygotes: 555

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

DP
type: SiteQuality
SIO_000300: 9.308035e6

MQRankSum
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

QD
type: SiteQuality
SIO_000300: 1.717e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.53e-1

GenotypeQuality
all individuals: 700
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

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

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 56117
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 586
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.634143e6

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56117
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.176e1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

FS
type: SiteQuality
SIO_000300: 1.127e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.243e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 5.633764e6

VQSLOD
type: SiteQuality
SIO_000300: 4.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 510
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048846269103986e-4
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 5.633435e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.57e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 1.779e0

QD
type: SiteQuality
SIO_000300: 1.442e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 1564
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.099e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.792e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.722e0

VQSLOD
type: SiteQuality
SIO_000300: -1.92e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 5.632523e6

QD
type: SiteQuality
SIO_000300: 1.22e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1565
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.434e0

FS
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.635e1

VQSLOD
type: SiteQuality
SIO_000300: -1.307e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 5.632342e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.917e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.466605038132656e-4
allele num: 8654
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.23e-1

QD
type: SiteQuality
SIO_000300: 1.313e1

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 5.632146e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.797e0

MQRankSum
type: SiteQuality
SIO_000300: -1.829e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.29e-1

FS
type: SiteQuality
SIO_000300: 1.619e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 5.631726e6

QD
type: SiteQuality
SIO_000300: 1.516e1

VQSLOD
type: SiteQuality
SIO_000300: -6.622e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.51e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.353e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.081e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

DP
type: SiteQuality
SIO_000300: 5.631549e6

QD
type: SiteQuality
SIO_000300: 1.165e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 5.924e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e-1

DP
type: SiteQuality
SIO_000300: 5.631429e6

QD
type: SiteQuality
SIO_000300: 1.662e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.406e-1

QD
type: SiteQuality
SIO_000300: 6.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

FS
type: SiteQuality
SIO_000300: 1.821e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.486e0

MQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 5.631193e6

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: 48

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 908
num of homozygotes: 0

African
type: Population
allele count: 43
allele frequency: 4.134615384615385e-3
allele num: 10400
num of homozygotes: 1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.729206294310911e-4
allele num: 11566
num of homozygotes: 0

South Asian
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allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 1

East Asian
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allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.89e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.411e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 5.631213e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.755e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-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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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.755e0

VQSLOD
type: SiteQuality
SIO_000300: 6.22e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.89e-2

DP
type: SiteQuality
SIO_000300: 5.631213e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.411e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.053268765133172e-4
allele num: 11564
num of homozygotes: 0

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

African
type: Population
allele count: 89
allele frequency: 8.559338334295057e-3
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

DP
type: SiteQuality
SIO_000300: 5.62742e6

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 8654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.028100775193798e-4
allele num: 16512
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.888e0

FS
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.575e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.68e-1

MQ
type: SiteQuality
SIO_000300: 6.028e1

DP
type: SiteQuality
SIO_000300: 5.620434e6

QD
type: SiteQuality
SIO_000300: 1.328e1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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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

MQ
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.62018e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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MQRankSum
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 59

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

Other
type: Population
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allele frequency: 1.101321585903084e-3
allele num: 908
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
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allele count: 58
allele frequency: 6.702103073723134e-3
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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South Asian
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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QD
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SIO_000300: 1.313e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 3.028100775193798e-4
allele num: 16512
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Other
type: Population
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 38
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

African
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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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.163e0

DP
type: SiteQuality
SIO_000300: 5.616741e6

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

QD
type: SiteQuality
SIO_000300: 1.459e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-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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variant carriers: 2

GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.996703626011388e-5
allele num: 66740
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
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: 3.163e0

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
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VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

BaseQRankSum
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SIO_000300: 2.17e0

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

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

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

East Asian
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allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.616018e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.223e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -5.973000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16512
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.635767970707265e-5
allele num: 10378
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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 (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: 66738
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.615485e6

VQSLOD
type: SiteQuality
SIO_000300: -2.858e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.145e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.72e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545212930341801e-5
allele num: 64716
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.649184e6

QD
type: SiteQuality
SIO_000300: 1.289e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -2.021e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.982e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.48e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8588
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54354335813293e-5
allele num: 64786
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10204
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MQRankSum
type: SiteQuality
SIO_000300: -1.242e0

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: -1.374e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.017e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6596
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: 3.085372250161982e-5
allele num: 64822
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African
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East Asian
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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
allele count: 0
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allele num: 840
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VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
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SIO_000300: 1.38e-1

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.537326282130119e-5
allele num: 65048
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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East Asian
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African
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VQSLOD
type: SiteQuality
SIO_000300: -6.262e-1

DP
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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ReadPosRankSum
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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South Asian
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Other
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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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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.537089981247502e-5
allele num: 65058
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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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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variant carriers: 0

East Asian
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num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Latino
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allele frequency: 2.605976372480889e-4
allele num: 11512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
SIO_000300: 1.673059e6

MQ
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FS
type: SiteQuality
SIO_000300: 1.2094e1

ClippingRankSum
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MQRankSum
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VQSLOD
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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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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.581551618814906e-5
allele num: 65480
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
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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QD
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DP
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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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African
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allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

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

Other
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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: 1.523182842868458e-5
allele num: 65652
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6612
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

South Asian
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African
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allele frequency: 1.347449470644851e-3
allele num: 10390
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

FS
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
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DP
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SIO_000300: 1.731439e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15844
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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.866e1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: -8.05e-1

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

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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South Asian
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allele num: 16340
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Other
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MQ
type: SiteQuality
SIO_000300: 5.964e1

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

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

African
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Other
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South Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.104e0

DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.449999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: 5.09e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

South Asian
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BaseQRankSum
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SIO_000300: -3.605e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.744244e6

MQRankSum
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 1.744548e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.337e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.07e-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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variant carriers: 1

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: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.996e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.147e0

QD
type: SiteQuality
SIO_000300: 1.01e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.97e-1

FS
type: SiteQuality
SIO_000300: 8.97e-1

DP
type: SiteQuality
SIO_000300: 1.744158e6

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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
all individuals: 2012
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.622e1

FS
type: SiteQuality
SIO_000300: 4.444e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.744145e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

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: 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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
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East Asian
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European (Non-Finnish)
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allele num: 66720
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African
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
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allele frequency: 0.0e0
allele num: 16510
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Latino
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East Asian
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Other
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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ClippingRankSum
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FS
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DP
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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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GenotypeQuality
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variant carriers: 9

European (Finnish)
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South Asian
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Latino
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African
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allele frequency: 1.922337562475971e-4
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European (Non-Finnish)
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allele frequency: 8.993075331994364e-5
allele num: 66718
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Other
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East Asian
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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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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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

South Asian
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.744681e6

QD
type: SiteQuality
SIO_000300: 1.592e1

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.29e-2

GenotypeQuality
all individuals: 2153
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2005
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.743931e6

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.839e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.331e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 8746
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44014
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2006
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 25
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2081
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

DP
type: SiteQuality
SIO_000300: 1.743847e6

QD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

FS
type: SiteQuality
SIO_000300: 1.298e1

MQ
type: SiteQuality
SIO_000300: 5.824e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.958e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.5e-1