12-133209278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209278
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209278
    reference: chr 12
allele count: 1
allele frequency: 8.39785686692756e-6
allele num: 119078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.406G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.398G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.391G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1477G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5859G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6108G>A
  hgvsp: ENST00000320574.5:c.6108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1586G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.6027G>A
  hgvsp: ENST00000535270.1:c.6027G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28156
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu2036Glu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

12-133209279-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209279
    reference: chr 12
allele count: 2
allele frequency: 1.679797080512674e-5
allele num: 119062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.6026A>T
  hgvsp: ENSP00000445753.1:p.Glu2009Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1585A>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.397A>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.405A>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6107A>T
  hgvsp: ENSP00000322570.5:p.Glu2036Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5858A>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1476A>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.390A>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7432
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu2036Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-133209283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209283
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209283
    reference: chr 12
allele count: 1
allele frequency: 8.408024618696084e-6
allele num: 118934
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.386C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.393C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.6022C>T
  hgvsp: ENSP00000445753.1:p.Gln2008Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1472C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1581C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6103C>T
  hgvsp: ENSP00000322570.5:p.Gln2035Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5854C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.401C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln2035Ter
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

12-133209289-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209289
    reference: chr 12
allele count: 1
allele frequency: 8.413117733169558e-6
allele num: 118862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1575C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1466C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.387C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6097C>G
  hgvsp: ENSP00000322570.5:p.Leu2033Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.6016C>G
  hgvsp: ENSP00000445753.1:p.Leu2006Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.395C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.380C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5848C>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3121
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu2033Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

12-133209303-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209303
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209303
    reference: chr 12
allele count: 1
allele frequency: 8.443236123541432e-6
allele num: 118438
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.366G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5834G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.373G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.381G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6083G>C
  hgvsp: ENSP00000322570.5:p.Arg2028Thr
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.6002G>C
  hgvsp: ENSP00000445753.1:p.Arg2001Thr
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1452G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1561G>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg2028Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-133209313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209313
    reference: chr 12
allele count: 5
allele frequency: 4.228902007882673e-5
allele num: 118234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.363G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5992G>A
  hgvsp: ENSP00000445753.1:p.Val1998Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.356G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1551G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6073G>A
  hgvsp: ENSP00000322570.5:p.Val2025Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1442G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5824G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.371G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val2025Met
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-133209313-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209312
    reference: chr 12
allele count: 1
allele frequency: 8.457804015765346e-6
allele num: 118234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.362delC
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5991delC
  hgvsp: ENSP00000445753.1:p.Val1998Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.355delC
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6072delC
  hgvsp: ENSP00000322570.5:p.Val2025Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5823delC
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.370delC
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1550delC
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1441delC
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7427
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3177
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1826
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val2025Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
reference allele: CG
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

12-133209314-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209314
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209314
    reference: chr 12
allele count: 1
allele frequency: 8.457231778894133e-6
allele num: 118242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5991C>T
  hgvsp: ENST00000535270.1:c.5991C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1550C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6072C>T
  hgvsp: ENST00000320574.5:c.6072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.362C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5823C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1441C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.370C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.355C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10303
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro2024Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

12-133209316-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209316
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209316
    reference: chr 12
allele count: 1
allele frequency: 8.457231778894133e-6
allele num: 118242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.368C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5989C>A
  hgvsp: ENSP00000445753.1:p.Pro1997Thr
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6070C>A
  hgvsp: ENSP00000322570.5:p.Pro2024Thr
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5821C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1439C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.353C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.360C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1548C>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7519
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28200
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro2024Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-133209317-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209317
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209317
    reference: chr 12
allele count: 1
allele frequency: 8.461525443807009e-6
allele num: 118182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5820C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1547C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.359C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.367C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5988C>A
  hgvsp: ENST00000535270.1:c.5988C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6069C>A
  hgvsp: ENST00000320574.5:c.6069C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.352C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1438C>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3763
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr2023Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS

12-133209318-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209318
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209318
    reference: chr 12
allele count: 2
allele frequency: 1.691846989358282e-5
allele num: 118214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.351C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1437C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1546C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5987C>A
  hgvsp: ENSP00000445753.1:p.Thr1996Asn
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5819C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6068C>A
  hgvsp: ENSP00000322570.5:p.Thr2023Asn
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.358C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.366C>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8083
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6559
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28205
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr2023Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

12-133209320-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209320
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209320
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 118122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.356C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5817C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.349C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.364C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5985C>T
  hgvsp: ENST00000535270.1:c.5985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6066C>T
  hgvsp: ENST00000320574.5:c.6066C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1544C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1435C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7426
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28208
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser2022Ser
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

12-133209326-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209326
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209326
    reference: chr 12
allele count: 1
allele frequency: 8.470986869970351e-6
allele num: 118050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.358A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5979A>G
  hgvsp: ENST00000535270.1:c.5979A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6060A>G
  hgvsp: ENST00000320574.5:c.6060A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5811A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1538A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.350A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1429A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.343A>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro2020Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

12-133209328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209328
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209328
    reference: chr 12
allele count: 1
allele frequency: 8.473283736379196e-6
allele num: 118018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5977C>G
  hgvsp: ENSP00000445753.1:p.Pro1993Ala
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.356C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5809C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.348C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1536C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.341C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1427C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6058C>G
  hgvsp: ENSP00000322570.5:p.Pro2020Ala
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3159
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro2020Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

12-133209330-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209330
    reference: chr 12
allele count: 1
allele frequency: 8.475438180153914e-6
allele num: 117988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1534C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.346C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6056C>A
  hgvsp: ENSP00000322570.5:p.Ala2019Asp
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1425C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5807C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5975C>A
  hgvsp: ENSP00000445753.1:p.Ala1992Asp
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.354C>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.339C>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10388
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala2019Asp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

12-133209334-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209334
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209334
    reference: chr 12
allele count: 1
allele frequency: 8.48219587086705e-6
allele num: 117894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.342A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1530A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1421A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.335A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5971A>C
  hgvsp: ENSP00000445753.1:p.Ser1991Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6052A>C
  hgvsp: ENSP00000322570.5:p.Ser2018Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5803A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.350A>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2549
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser2018Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/12-133209336-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209336
    reference: chr 12
allele count: 1
allele frequency: 8.499065102838687e-6
allele num: 117660
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6050G>T
  hgvsp: ENSP00000322570.5:p.Arg2017Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1419G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.348G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1528G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.333G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5969G>T
  hgvsp: ENSP00000445753.1:p.Arg1990Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5801G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.340G>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3202
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg2017Leu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-133209336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209336
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209336
    reference: chr 12
allele count: 5
allele frequency: 4.249532551419344e-5
allele num: 117660
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6050G>A
  hgvsp: ENSP00000322570.5:p.Arg2017His
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.348G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5969G>A
  hgvsp: ENSP00000445753.1:p.Arg1990His
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1419G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5801G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.340G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1528G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.333G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg2017His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

12-133209337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209337
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209337
    reference: chr 12
allele count: 8
allele frequency: 6.799945600435197e-5
allele num: 117648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1527C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6049C>T
  hgvsp: ENSP00000322570.5:p.Arg2017Cys
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.347C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.339C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5800C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5968C>T
  hgvsp: ENSP00000445753.1:p.Arg1990Cys
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1418C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.332C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg2017Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

12-133209341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209341
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209341
    reference: chr 12
allele count: 4
allele frequency: 3.401302698933691e-5
allele num: 117602
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6045G>A
  hgvsp: ENST00000320574.5:c.6045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.335G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5964G>A
  hgvsp: ENST00000535270.1:c.5964G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1414G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.343G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1523G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5796G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.328G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu2015Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

12-133209343-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209343
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209343
    reference: chr 12
allele count: 5
allele frequency: 4.254739780115048e-5
allele num: 117516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1521C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5794C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5962C>G
  hgvsp: ENSP00000445753.1:p.Leu1988Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.333C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.341C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.326C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1412C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6043C>G
  hgvsp: ENSP00000322570.5:p.Leu2015Val
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7522
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu2015Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

12-133209345-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209345
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209345
    reference: chr 12
allele count: 1
allele frequency: 8.515711487694797e-6
allele num: 117430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5792G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6041G>A
  hgvsp: ENSP00000322570.5:p.Gly2014Glu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.339G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5960G>A
  hgvsp: ENSP00000445753.1:p.Gly1987Glu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.324G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1519G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.331G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1410G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7526
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly2014Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

12-133209346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209346
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209346
    reference: chr 12
allele count: 3
allele frequency: 2.556498619490745e-5
allele num: 117348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5959G>A
  hgvsp: ENSP00000445753.1:p.Gly1987Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5791G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6040G>A
  hgvsp: ENSP00000322570.5:p.Gly2014Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.330G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.338G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.323G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1409G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1518G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7530
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly2014Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD

12-133209347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209347
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209347
    reference: chr 12
allele count: 5
allele frequency: 4.262211235188816e-5
allele num: 117310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1408C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6039C>T
  hgvsp: ENST00000320574.5:c.6039C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.337C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5958C>T
  hgvsp: ENST00000535270.1:c.5958C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1517C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5790C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.322C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.329C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7461
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp2013Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

12-133209353-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209353
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209353
    reference: chr 12
allele count: 1
allele frequency: 8.537959769133568e-6
allele num: 117124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1511G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6033G>A
  hgvsp: ENSP00000322570.5:p.Met2011Ile
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5784G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1402G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.331G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.323G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5952G>A
  hgvsp: ENSP00000445753.1:p.Met1984Ile
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.316G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7457
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met2011Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

12-133209362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209362
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209362
    reference: chr 12
allele count: 1
allele frequency: 8.6071852782703e-6
allele num: 116182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.314C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.322C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1502C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5775C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6024C>T
  hgvsp: ENST00000320574.5:c.6024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5943C>T
  hgvsp: ENST00000535270.1:c.5943C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1393C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.307C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1977
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7118
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Tyr2008Tyr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

12-133209367-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209367
    reference: chr 12
allele count: 1
allele frequency: 8.655310898767484e-6
allele num: 115536
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5770G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.317G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5938G>C
  hgvsp: ENSP00000445753.1:p.Val1980Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.309G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1497G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6019G>C
  hgvsp: ENSP00000322570.5:p.Val2007Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.302G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1388G>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28251
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val2007Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-133209367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209367
    reference: chr 12
allele count: 2
allele frequency: 1.731062179753497e-5
allele num: 115536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5770G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6019G>A
  hgvsp: ENSP00000322570.5:p.Val2007Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.317G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.309G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5938G>A
  hgvsp: ENSP00000445753.1:p.Val1980Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1497G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.302G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1388G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7518
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val2007Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-133209368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209368
    reference: chr 12
allele count: 5
allele frequency: 4.330354049747108e-5
allele num: 115464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.308C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5769C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6018C>T
  hgvsp: ENST00000320574.5:c.6018C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.301C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.316C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1387C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5937C>T
  hgvsp: ENST00000535270.1:c.5937C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1496C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3165
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3167
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala2006Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-133209369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209369
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209369
    reference: chr 12
allele count: 10
allele frequency: 8.670921198668146e-5
allele num: 115328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1386C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6017C>T
  hgvsp: ENSP00000322570.5:p.Ala2006Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5936C>T
  hgvsp: ENSP00000445753.1:p.Ala1979Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.300C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5768C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.307C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.315C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1495C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala2006Val
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: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

12-133209374-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209374
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209374
    reference: chr 12
allele count: 5
allele frequency: 4.364753740593956e-5
allele num: 114554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.295C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5931C>T
  hgvsp: ENST00000535270.1:c.5931C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1490C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.302C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.310C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5763C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6012C>T
  hgvsp: ENST00000320574.5:c.6012C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1381C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2436
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile2004Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-133209380-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209380
    reference: chr 12
allele count: 1
allele frequency: 8.775778850372971e-6
allele num: 113950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5925G>C
  hgvsp: ENST00000535270.1:c.5925G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.304G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.296G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1375G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5757G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1484G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6006G>C
  hgvsp: ENST00000320574.5:c.6006G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.289G>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28264
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
hgvs: c.6006G>C
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

12-133209380-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209380
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209380
    reference: chr 12
allele count: 24
allele frequency: 2.106186924089513e-4
allele num: 113950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5757G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5925G>A
  hgvsp: ENST00000535270.1:c.5925G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.289G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6006G>A
  hgvsp: ENST00000320574.5:c.6006G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1375G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1484G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.296G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.304G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5593
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28264
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
hgvs: c.6006G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-133209402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209402
    reference: chr 12
allele count: 6
allele frequency: 5.3642313056539e-5
allele num: 111852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.288-21G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5924-21G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5756-21G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1353G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.295-21G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1483-21G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.303-21G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6005-21G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2599
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

12-133209415-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209415
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209415
    reference: chr 12
allele count: 1
allele frequency: 9.089752213354665e-6
allele num: 110014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.295-34A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1340A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1483-34A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6005-34A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5756-34A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.288-34A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5924-34A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.303-34A>C
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2601
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3877
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-133209416-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209416
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209416
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 109638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.288-35G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5756-35G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1483-35G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5924-35G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.295-35G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1339G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.303-35G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6005-35G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28255
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-133209426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209426
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209426
    reference: chr 12
allele count: 3
allele frequency: 2.75709953129308e-5
allele num: 108810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.295-45G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6005-45G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1483-45G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.288-45G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5924-45G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5756-45G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1329G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.303-45G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3293
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/12-133209426-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209426
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209424
    reference: chr 12
allele count: 5
allele frequency: 4.595165885488466e-5
allele num: 108810
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5756-47_*5756-46delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.295-47_295-46delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5924-47_5924-46delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1483-47_1483-46delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.303-47_303-46delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1327_1328delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.288-47_288-46delTT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6005-47_6005-46delTT
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28261
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: CAA
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-133209429-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133209429
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133209428
    reference: chr 12
allele count: 3
allele frequency: 2.761769742050706e-5
allele num: 108626
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5924-49delG
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6005-49delG
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1483-49delG
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5756-49delG
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.303-49delG
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.288-49delG
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.1325delG
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.295-49delG
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6570
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6382
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28261
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3169
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2376
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: AC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

12-133210729-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210729
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210729
    reference: chr 12
allele count: 58
allele frequency: 5.16786656212132e-4
allele num: 112232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.26C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.370C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+43C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+43C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5822
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 9.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

12-133210731-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210731
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210731
    reference: chr 12
allele count: 2
allele frequency: 1.781864186311719e-5
allele num: 112242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.24G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+41G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+41G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+41G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.368G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+41G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+41G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+41G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+41G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46556
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-133210732-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210732
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210732
    reference: chr 12
allele count: 1
allele frequency: 8.903768074649192e-6
allele num: 112312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+40G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.367G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+40G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+40G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+40G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+40G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.23G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+40G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+40G>T
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-133210740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210740
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210740
    reference: chr 12
allele count: 1
allele frequency: 8.891418003343173e-6
allele num: 112468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+32C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+32C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.359C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+32C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+32C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+32C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+32C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.15C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+32C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3851
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

12-133210742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210742
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210742
    reference: chr 12
allele count: 2
allele frequency: 1.77695642902836e-5
allele num: 112552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+30C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.357C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+30C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+30C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+30C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.13C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+30C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+30C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+30C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

12-133210749-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210749
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210749
    reference: chr 12
allele count: 4
allele frequency: 3.540637668844159e-5
allele num: 112974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.350C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+23C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+23C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  hgvsc: ENST00000544692.1:n.6C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+23C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+23C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+23C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+23C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+23C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-133210750-CAGCCCTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210750
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210743
    reference: chr 12
allele count: 1
allele frequency: 8.847834934791456e-6
allele num: 113022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+15_5923+21delCAGGGCT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.342_348delCAGGGCT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+15_287+21delCAGGGCT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+15_302+21delCAGGGCT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+15_294+21delCAGGGCT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+15_6004+21delCAGGGCT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544692
  gene symbol: POLE
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+15_*5755+21delCAGGGCT
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+15_1482+21delCAGGGCT
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: CAGCCCTG
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

12-133210758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210758
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210758
    reference: chr 12
allele count: 1
allele frequency: 8.786110915864203e-6
allele num: 113816
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+14C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+14C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+14C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.341C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+14C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+14C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+14C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+14C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

12-133210761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210761
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210761
    reference: chr 12
allele count: 81
allele frequency: 7.098538226942896e-4
allele num: 114108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+11A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+11A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+11A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.338A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+11A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+11A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+11A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+11A>G
  variant of: http://identifiers.org/hgnc/9177
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3835
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 9.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-133210767-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210767
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210767
    reference: chr 12
allele count: 23
allele frequency: 2.004986313789075e-4
allele num: 114714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5755+5G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.332G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.294+5G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5923+5G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6004+5G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.287+5G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1482+5G>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.302+5G>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3782
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3050
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5671
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
hgvs: c.6004+5G>T
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-133210776-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210776
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210776
    reference: chr 12
allele count: 1
allele frequency: 8.61000137760022e-6
allele num: 116144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5751T>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.298T>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.283T>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1478T>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.6000T>A
  hgvsp: ENST00000320574.5:c.6000T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.290T>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5919T>A
  hgvsp: ENST00000535270.1:c.5919T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.323T>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3768
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4651
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2558
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val2000Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

12-133210788-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210788
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210788
    reference: chr 12
allele count: 3
allele frequency: 2.545047337880485e-5
allele num: 117876
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.271C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5988C>G
  hgvsp: ENSP00000322570.5:p.Phe1996Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5907C>G
  hgvsp: ENSP00000445753.1:p.Phe1969Leu
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5739C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1466C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.278C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.286C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.311C>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe1996Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-133210806-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210806
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210806
    reference: chr 12
allele count: 2
allele frequency: 1.665195743759679e-5
allele num: 120106
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5970C>T
  hgvsp: ENST00000320574.5:c.5970C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.268C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.253C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5889C>T
  hgvsp: ENST00000535270.1:c.5889C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5721C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.293C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1448C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.260C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1990Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-133210810-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210810
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210810
    reference: chr 12
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.289C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.264C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5966C>G
  hgvsp: ENSP00000322570.5:p.Ala1989Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.256C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5885C>G
  hgvsp: ENSP00000445753.1:p.Ala1962Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.249C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1444C>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5717C>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala1989Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

12-133210814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210814
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210814
    reference: chr 12
allele count: 1
allele frequency: 8.277460475126231e-6
allele num: 120810
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5881C>T
  hgvsp: ENSP00000445753.1:p.Gln1961Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.285C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5713C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.252C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1440C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5962C>T
  hgvsp: ENSP00000322570.5:p.Gln1988Ter
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.260C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.245C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5507
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln1988Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

12-133210840-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210840
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210840
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5687A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5936A>C
  hgvsp: ENSP00000322570.5:p.Asn1979Thr
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5855A>C
  hgvsp: ENSP00000445753.1:p.Asn1952Thr
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1414A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.219A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.259A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.234A>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.226A>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn1979Thr
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-133210846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210846
    reference: chr 12
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.228A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1408A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5930A>G
  hgvsp: ENSP00000322570.5:p.Glu1977Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5681A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.253A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5849A>G
  hgvsp: ENSP00000445753.1:p.Glu1950Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.213A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.220A>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu1977Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-133210847-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210847
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210847
    reference: chr 12
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1407G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.227G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5680G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5848G>C
  hgvsp: ENSP00000445753.1:p.Glu1950Gln
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.252G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.212G>C
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5929G>C
  hgvsp: ENSP00000322570.5:p.Glu1977Gln
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.219G>C
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46548
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1977Gln
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

12-133210861-A-ACGTTGGATTCCTCCGCCTCTTCCTCCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210861
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210888
    reference: chr 12
allele count: 8
allele frequency: 6.59098024353672e-5
allele num: 121378
alternate allele: ACGTTGGATTCCTCCGCCTCTTCCTCCT
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsp: ENSP00000322570.5:p.Glu1963_Asn1971dup
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsp: ENSP00000445753.1:p.Glu1936_Asn1944dup
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4747
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu1963_Asn1971dup
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-133210862-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210862
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210862
    reference: chr 12
allele count: 5
allele frequency: 4.119430529923544e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.212G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5665G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.204G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1392G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5914G>A
  hgvsp: ENSP00000322570.5:p.Val1972Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.237G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5833G>A
  hgvsp: ENSP00000445753.1:p.Val1945Met
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.197G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3759
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val1972Met
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

12-133210863-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210863
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210863
    reference: chr 12
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5913C>T
  hgvsp: ENST00000320574.5:c.5913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.236C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1391C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.203C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5832C>T
  hgvsp: ENST00000535270.1:c.5832C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.211C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5664C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.196C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3287
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn1971Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

12-133210864-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210864
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210864
    reference: chr 12
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.235A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.210A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1390A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5831A>G
  hgvsp: ENSP00000445753.1:p.Asn1944Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5663A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5912A>G
  hgvsp: ENSP00000322570.5:p.Asn1971Ser
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.202A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.195A>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2267
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn1971Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-133210869-T-TTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210869
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210872
    reference: chr 12
allele count: 2
allele frequency: 1.647799363949445e-5
allele num: 121374
alternate allele: TTCC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5655_*5657dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5904_5906dupGGA
  hgvsp: ENSP00000322570.5:p.Glu1969dup
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.202_204dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.227_229dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.194_196dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5823_5825dupGGA
  hgvsp: ENSP00000445753.1:p.Glu1942dup
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.187_189dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1382_1384dupGGA
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu1969dup
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

12-133210870-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210870
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210870
    reference: chr 12
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.229A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5657A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1384A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5906A>G
  hgvsp: ENSP00000322570.5:p.Glu1969Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.204A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.196A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.189A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5825A>G
  hgvsp: ENSP00000445753.1:p.Glu1942Gly
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3845
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu1969Gly
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

12-133210875-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210875
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210875
    reference: chr 12
allele count: 12
allele frequency: 9.886633271816504e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.191G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5820G>A
  hgvsp: ENST00000535270.1:c.5820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5652G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.184G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.224G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1379G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5901G>A
  hgvsp: ENST00000320574.5:c.5901G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.199G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4746
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6321
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala1967Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

12-133210876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210876
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210876
    reference: chr 12
allele count: 13
allele frequency: 1.071016641950898e-4
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5900C>T
  hgvsp: ENSP00000322570.5:p.Ala1967Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.198C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.190C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5819C>T
  hgvsp: ENSP00000445753.1:p.Ala1940Val
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.183C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5651C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1378C>T
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.223C>T
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5666
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1967Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

12-133210878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210878
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210878
    reference: chr 12
allele count: 3
allele frequency: 2.471780505891077e-5
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.188G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5817G>A
  hgvsp: ENST00000535270.1:c.5817G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.181G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.196G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5898G>A
  hgvsp: ENST00000320574.5:c.5898G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.221G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1376G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5649G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4742
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5895
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu1966Glu
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-133210881-T-TTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210881
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210884
    reference: chr 12
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: TTCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1370_1372dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5811_5813dupGGA
  hgvsp: ENSP00000445753.1:p.Glu1938dup
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.175_177dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5643_*5645dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5892_5894dupGGA
  hgvsp: ENSP00000322570.5:p.Glu1965dup
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.182_184dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.190_192dupGGA
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.215_217dupGGA
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 6365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu1965dup
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-133210889-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210889
    reference: chr 12
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.177G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5806G>A
  hgvsp: ENSP00000445753.1:p.Glu1936Lys
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1365G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5887G>A
  hgvsp: ENSP00000322570.5:p.Glu1963Lys
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.210G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5638G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.170G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.185G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1963Lys
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-133210891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210891
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210891
    reference: chr 12
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1363A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.168A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5885A>G
  hgvsp: ENSP00000322570.5:p.Glu1962Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5636A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.175A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.183A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.208A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5804A>G
  hgvsp: ENSP00000445753.1:p.Glu1935Gly
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4743
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1962Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

12-133210895-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210895
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210895
    reference: chr 12
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.204G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5881G>A
  hgvsp: ENSP00000322570.5:p.Gly1961Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.164G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.179G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.171G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1359G>A
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5800G>A
  hgvsp: ENSP00000445753.1:p.Gly1934Arg
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5632G>A
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1961Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

12-133210903-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133210903
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133210903
    reference: chr 12
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000322570
  ensembl transcript: ENST00000320574
  gene symbol: POLE
  hgvsc: ENST00000320574.5:c.5873A>G
  hgvsp: ENSP00000322570.5:p.Glu1958Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000442578
  ensembl transcript: ENST00000537064
  gene symbol: POLE
  hgvsc: ENST00000537064.1:c.*5624A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544870
  gene symbol: POLE
  hgvsc: ENST00000544870.1:n.171A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000544414
  gene symbol: POLE
  hgvsc: ENST00000544414.1:n.156A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000416953
  gene symbol: POLE
  hgvsc: ENST00000416953.2:n.196A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000177084
  ensembl protein: ENSP00000445753
  ensembl transcript: ENST00000535270
  gene symbol: POLE
  hgvsc: ENST00000535270.1:c.5792A>G
  hgvsp: ENSP00000445753.1:p.Glu1931Gly
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000541213
  gene symbol: POLE
  hgvsc: ENST00000541213.1:n.1351A>G
  variant of: http://identifiers.org/hgnc/9177
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000177084
  ensembl transcript: ENST00000441786
  gene symbol: POLE
  hgvsc: ENST00000441786.2:n.163A>G
  variant of: http://identifiers.org/hgnc/9177
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3748
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6364
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu1958Gly
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4172
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.535437906891045e-5
allele num: 65128
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.325e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.31e-1

DP
type: SiteQuality
SIO_000300: 2.48893e6

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 1.093e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.614e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.82e-1

GenotypeQuality
all individuals: 3162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3114
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28158
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 183
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.071253071253071e-5
allele num: 65120
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 8.802e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

DP
type: SiteQuality
SIO_000300: 2.488728e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.312e1

GenotypeQuality
all individuals: 222
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28154
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.123595505617978e-3
allele num: 890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65032
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.684e0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

FS
type: SiteQuality
SIO_000300: 2.017e0

DP
type: SiteQuality
SIO_000300: 2.487245e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1735
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3116
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 227
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538792970793709e-5
allele num: 64986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.813e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 9.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

VQSLOD
type: SiteQuality
SIO_000300: -8.37e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

DP
type: SiteQuality
SIO_000300: 2.485792e6

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

GenotypeQuality
all individuals: 10032
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1766
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 249
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3148
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544878727019929e-5
allele num: 64730
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 2.481962e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.289999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -6.238e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.716e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

GenotypeQuality
all individuals: 10166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28188
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 3157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1826
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.739938080495357e-5
allele num: 64600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.481881e6

FS
type: SiteQuality
SIO_000300: 5.222e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

GenotypeQuality
all individuals: 252
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10166
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28188
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 348
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.222e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 2.481881e6

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 4151
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28190
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3140
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2334
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54765221159501e-5
allele num: 64614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.482598e6

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.105e1

FS
type: SiteQuality
SIO_000300: 3.005e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3172
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64624
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.655e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 2.48283e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 2.07e0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

African
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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: 880
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64598
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.482084e6

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.1e-3

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.244e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6566
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.738525730180807e-4
allele num: 11504
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.809e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.43e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 880
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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64564
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9740
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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 2.482597e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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QD
type: SiteQuality
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MQRankSum
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SIO_000300: -3.03e-1

MQ
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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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54933068914229e-5
allele num: 64544
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.483448e6

VQSLOD
type: SiteQuality
SIO_000300: -1.783e0

MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8496
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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.549907005579665e-5
allele num: 64520
num of homozygotes: 0

QD
type: SiteQuality
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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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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African
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num of homozygotes: 0

South Asian
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allele frequency: 6.129704548240775e-5
allele num: 16314
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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: 0
allele frequency: 0.0e0
allele num: 64512
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
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Latino
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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African
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European (Non-Finnish)
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allele frequency: 1.551205286507616e-5
allele num: 64466
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Latino
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European (Non-Finnish)
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Other
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European (Finnish)
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele count: 5
allele frequency: 7.770732313813254e-5
allele num: 64344
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.372e0

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

VQSLOD
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DP
type: SiteQuality
SIO_000300: 2.479938e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.116e1

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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variant carriers: 8

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.440641963653528e-4
allele num: 8474
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.409e1

MQRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.83e-1

DP
type: SiteQuality
SIO_000300: 2.48016e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.554823061135643e-5
allele num: 64316
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9686
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.541912632821724e-4
allele num: 8470
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.757e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

QD
type: SiteQuality
SIO_000300: 2.123e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.88e-1

DP
type: SiteQuality
SIO_000300: 2.479484e6

FS
type: SiteQuality
SIO_000300: 6.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.656e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64284
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 3.090616887130671e-4
allele num: 16178
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.161e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.478442e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

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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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556468683850081e-5
allele num: 64248
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.549e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

DP
type: SiteQuality
SIO_000300: 2.477289e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.936e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.44e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

VQSLOD
type: SiteQuality
SIO_000300: -3.9e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.567600487210718e-4
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16108
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-2

FS
type: SiteQuality
SIO_000300: 9.93e-1

DP
type: SiteQuality
SIO_000300: 2.477038e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.67e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

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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bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.036484245439469e-4
allele num: 9648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557341306920825e-5
allele num: 64212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.614151272220286e-4
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16082
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.798e0

ReadPosRankSum
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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BaseQRankSum
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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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.559527151367705e-5
allele num: 64122
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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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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South Asian
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African
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Latino
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Other
type: Population
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num of homozygotes: 0

East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.567643831321524e-5
allele num: 63790
num of homozygotes: 0

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

GenotypeQuality
all individuals: 3178
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.188212927756654e-4
allele num: 8416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

FS
type: SiteQuality
SIO_000300: 5.723e0

DP
type: SiteQuality
SIO_000300: 2.440297e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
all individuals: 121
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3168
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28251
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3346
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.041362530413625e-4
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 5.723e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.592e0

DP
type: SiteQuality
SIO_000300: 2.440297e6

QD
type: SiteQuality
SIO_000300: 1.234e1

GenotypeQuality
all individuals: 2354
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28253
bin: 9.75e1
variant carriers: 5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.978630787495053e-4
allele num: 15162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.150300853731531e-5
allele num: 63486
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 2.437869e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-2

GenotypeQuality
all individuals: 514
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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: 3.75e1
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2355
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variant carriers: 0

GenotypeQuality
all individuals: 28253
bin: 9.75e1
variant carriers: 9

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.612881893929374e-4
allele num: 15122
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.822e0

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 9.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

DP
type: SiteQuality
SIO_000300: 2.435007e6

MQRankSum
type: SiteQuality
SIO_000300: -2.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

GenotypeQuality
all individuals: 28250
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3828
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3170
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.754018641091449e-5
allele num: 14806
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.19047619047619e-4
allele num: 8400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.753303545964445e-5
allele num: 63114
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 3.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 2.419981e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
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variant carriers: 0

GenotypeQuality
all individuals: 678
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variant carriers: 0

GenotypeQuality
all individuals: 305
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variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3167
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3547
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7034
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589521871820956e-5
allele num: 62912
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

FS
type: SiteQuality
SIO_000300: 1.097e0

DP
type: SiteQuality
SIO_000300: 2.409754e6

QD
type: SiteQuality
SIO_000300: 1.154e1

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 2425
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3173
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.525625086337892e-4
allele num: 14478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.145002145002145e-4
allele num: 9324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.907426246185147e-4
allele num: 62912
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.190476190476191e-3
allele num: 840
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.097e0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

DP
type: SiteQuality
SIO_000300: 2.409754e6

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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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: 2397
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9076
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.467609828741623e-4
allele num: 13430
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.454e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

FS
type: SiteQuality
SIO_000300: 6.701e0

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

DP
type: SiteQuality
SIO_000300: 2.378964e6

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2383
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622797053000552e-5
allele num: 61622
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.408e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.74e-1

QD
type: SiteQuality
SIO_000300: 1.532e1

FS
type: SiteQuality
SIO_000300: 6.621e0

MQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.534e0

DP
type: SiteQuality
SIO_000300: 2.364916e6

GenotypeQuality
all individuals: 2353
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3099
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variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1904
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variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3311
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 7.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8340
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8866
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.363481e6

MQRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.14e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeQuality
all individuals: 347
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
all individuals: 3172
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.571134727459719e-4
allele num: 11668
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

FS
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 2.359308e6

GenotypeQuality
all individuals: 916
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
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GenotypeQuality
all individuals: 2354
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11668
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.394445420987871e-4
allele num: 11378
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 2.359308e6

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

GenotypeQuality
all individuals: 4752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 76
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variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61220
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8780
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.638986629134412e-4
allele num: 11368
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.55e-1

DP
type: SiteQuality
SIO_000300: 2.358734e6

QD
type: SiteQuality
SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 2.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

GenotypeQuality
all individuals: 100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46562
bin: 9.75e1
variant carriers: 58

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1080
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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
all individuals: 1092
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variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 51
allele frequency: 7.91311093871218e-4
allele num: 64450
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.225490196078431e-3
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.608695652173913e-4
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.946661475569399e-4
allele num: 10274
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.765e0

QD
type: SiteQuality
SIO_000300: 1.301e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

FS
type: SiteQuality
SIO_000300: 6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.19e-1

DP
type: SiteQuality
SIO_000300: 3.441545e6

GenotypeQuality
all individuals: 827
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1068
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1197
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variant carriers: 0

GenotypeQuality
all individuals: 1036
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1202
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GenotypeQuality
all individuals: 1910
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GenotypeQuality
all individuals: 650
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variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64452
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
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: 814
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.739130434782609e-4
allele num: 11500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.435414e6

VQSLOD
type: SiteQuality
SIO_000300: 4.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.398e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164415463437354e-4
allele num: 8588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.435612e6

MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.156e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 1.17e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550339524355834e-5
allele num: 64502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.213e0

FS
type: SiteQuality
SIO_000300: 1.957e0

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

DP
type: SiteQuality
SIO_000300: 3.43847e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46556
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09981401115933e-5
allele num: 64520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
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: 11504
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.106e0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 3.165e0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.002e0

DP
type: SiteQuality
SIO_000300: 3.438812e6

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64612
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.654410053525716e-4
allele num: 8594
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
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SIO_000300: 1.68e0

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

InbreedingCoeff
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SIO_000300: -1.3e-3

VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.443023e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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: 11508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.708737864077671e-5
allele num: 10300
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
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SIO_000300: 5.444e1

ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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SIO_000300: -6.802e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64814
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.757e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.868e0

QD
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MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 11328
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African
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allele count: 2
allele frequency: 1.939111886755866e-4
allele num: 10314
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 77
allele frequency: 1.186696668002343e-3
allele num: 64886
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.201923076923077e-3
allele num: 832
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.189e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

FS
type: SiteQuality
SIO_000300: 1.115e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

DP
type: SiteQuality
SIO_000300: 3.455457e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
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variant carriers: 22

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
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African
type: Population
allele count: 1
allele frequency: 9.686168151879117e-5
allele num: 10324
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: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.383678365990956e-4
allele num: 65018
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.449771e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

FS
type: SiteQuality
SIO_000300: 1.095e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.429e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65350
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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South Asian
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
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MQ
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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African
type: Population
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East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 2.130681818181818e-4
allele num: 14080
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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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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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.279099513942185e-4
allele num: 15636
num of homozygotes: 0

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: 0.0e0
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European (Finnish)
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African
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Other
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QD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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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variant carriers: 0

European (Non-Finnish)
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allele num: 66436
num of homozygotes: 0

Other
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Latino
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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African
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East Asian
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FS
type: SiteQuality
SIO_000300: 8.76e-1

MQRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: -1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
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VQSLOD
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

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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bin: 3.75e1
variant carriers: 0

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503442884204829e-5
allele num: 66514
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.404e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 9.04e-1

MQRankSum
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SIO_000300: 5.95e-1

DP
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QD
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.922e0

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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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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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

South Asian
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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 frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

African
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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

QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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FS
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SIO_000300: 3.008e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-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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GenotypeQuality
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variant carriers: 1

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

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

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

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: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
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FS
type: SiteQuality
SIO_000300: 1.855e0

MQ
type: SiteQuality
SIO_000300: 5.817e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.231e1

BaseQRankSum
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SIO_000300: 7.24e0

MQRankSum
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SIO_000300: -1.067e0

DP
type: SiteQuality
SIO_000300: 3.513137e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.33e-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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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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 (Finnish)
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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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

FS
type: SiteQuality
SIO_000300: 8.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.86e-1

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

GenotypeQuality
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variant carriers: 0

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

Other
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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
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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
allele num: 16506
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 8
allele frequency: 1.199148604490812e-4
allele num: 66714
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.229e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.512347e6

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

QD
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
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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: 5

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

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

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

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

East Asian
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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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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

Latino
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Other
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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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European (Finnish)
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African
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FS
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VQSLOD
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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ClippingRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Other
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African
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South Asian
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QD
type: SiteQuality
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 3.45e-1

MQ
type: SiteQuality
SIO_000300: 5.71e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 4.508e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 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: 10404
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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e0

MQRankSum
type: SiteQuality
SIO_000300: 6.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.511649e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 1.668e0

QD
type: SiteQuality
SIO_000300: 1.573e1

GenotypeQuality
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bin: 3.25e1
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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variant carriers: 12

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49667246237784e-5
allele num: 66716
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: 11574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 9
allele frequency: 5.451241671714113e-4
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.437e1

MQRankSum
type: SiteQuality
SIO_000300: -6.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.511179e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1910
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 11
allele frequency: 9.502418797512094e-4
allele num: 11576
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: 10404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.476e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.89e0

QD
type: SiteQuality
SIO_000300: 1.215e1

DP
type: SiteQuality
SIO_000300: 3.51068e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.510057e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 5.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.8e0

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.64e-1

QD
type: SiteQuality
SIO_000300: 2.881e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.33e-1

MQ
type: SiteQuality
SIO_000300: 5.807e1

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 1.445e0

DP
type: SiteQuality
SIO_000300: 3.509726e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.403e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 6.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1100
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.406e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

FS
type: SiteQuality
SIO_000300: 3.243e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.84e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 3.508602e6

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
all individuals: 1104
bin: 8.75e1
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GenotypeQuality
all individuals: 1903
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
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

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
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.192e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

DP
type: SiteQuality
SIO_000300: 3.508108e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.173e1