5-74879084-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879084
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879084
    reference: chr 5
allele count: 1
allele frequency: 8.39066957543212e-6
allele num: 119180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1811C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1811C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-34C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-34C>T
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/5-74879087-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879087
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879087
    reference: chr 5
allele count: 5
allele frequency: 4.190904061824217e-5
allele num: 119306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1814C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1814C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-31C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-31C>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

5-74879087-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879087
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879087
    reference: chr 5
allele count: 17
allele frequency: 1.424907381020234e-4
allele num: 119306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1814C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1814C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-31C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-31C>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

5-74879099-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879099
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879099
    reference: chr 5
allele count: 1
allele frequency: 8.340144451301897e-6
allele num: 119902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1826A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1826A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-19A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-19A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

5-74879104-ATTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879104
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879101
    reference: chr 5
allele count: 1
allele frequency: 8.325285557294615e-6
allele num: 120116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-8_*776-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-8_665-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-8_*776-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-8_935-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-8_935-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-8_1058-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1837_934+1839delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-8_935-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-8_935-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-8_665-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-8_737-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-8_935-6delCTT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1837_934+1839delCTT
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: ATTC
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-74879106-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879106
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879106
    reference: chr 5
allele count: 1
allele frequency: 8.319882856049386e-6
allele num: 120194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1833T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-12T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1833T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-12T>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-74879107-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879107
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879107
    reference: chr 5
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1834C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-11C>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1834C>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10655
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-74879110-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879110
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879109
    reference: chr 5
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1841delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-4delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1841delT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-4delT
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 17121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.935-4delT
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: CT
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-74879113-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879113
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879113
    reference: chr 5
allele count: 2
allele frequency: 1.660164356271271e-5
allele num: 120470
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1840T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935-5T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1840T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935-5T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.935-5T>C
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-74879118-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879118
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879118
    reference: chr 5
allele count: 1
allele frequency: 8.282533792737874e-6
allele num: 120736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1845G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.935G>A
  hgvsp: ENSP00000424174.1:p.Gly312Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.737G>A
  hgvsp: ENSP00000421997.2:p.Gly246Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1058G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.665G>A
  hgvsp: ENSP00000422094.2:p.Gly222Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.935G>A
  hgvsp: ENSP00000241436.4:p.Gly312Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.935G>A
  hgvsp: ENSP00000423526.1:p.Gly312Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.935G>A
  hgvsp: ENSP00000425075.1:p.Gly312Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*776G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.665G>A
  hgvsp: ENSP00000369848.3:p.Gly222Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*776G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.935G>A
  hgvsp: ENSP00000423532.1:p.Gly312Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1845G>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17296
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly312Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-74879119-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879119
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879119
    reference: chr 5
allele count: 10
allele frequency: 8.281985026171072e-5
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.936C>G
  hgvsp: ENST00000515295.1:c.936C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.936C>G
  hgvsp: ENST00000514141.1:c.936C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*777C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.666C>G
  hgvsp: ENST00000510815.2:c.666C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.936C>G
  hgvsp: ENST00000509126.1:c.936C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.936C>G
  hgvsp: ENST00000504026.1:c.936C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.738C>G
  hgvsp: ENST00000503479.2:c.738C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.666C>G
  hgvsp: ENST00000380481.3:c.666C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*777C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.936C>G
  hgvsp: ENST00000241436.4:c.936C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1059C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1846C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1846C>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.936C>G
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS

5-74879129-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879129
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879129
    reference: chr 5
allele count: 2
allele frequency: 1.652537471287161e-5
allele num: 121026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.946A>G
  hgvsp: ENSP00000424174.1:p.Asn316Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*787A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1856A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.946A>G
  hgvsp: ENSP00000423532.1:p.Asn316Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.676A>G
  hgvsp: ENSP00000422094.2:p.Asn226Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1856A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1069A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.748A>G
  hgvsp: ENSP00000421997.2:p.Asn250Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.946A>G
  hgvsp: ENSP00000425075.1:p.Asn316Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*787A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.676A>G
  hgvsp: ENSP00000369848.3:p.Asn226Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.946A>G
  hgvsp: ENSP00000423526.1:p.Asn316Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.946A>G
  hgvsp: ENSP00000241436.4:p.Asn316Asp
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn316Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

5-74879135-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879135
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879135
    reference: chr 5
allele count: 3
allele frequency: 2.477209671026556e-5
allele num: 121104
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.952A>G
  hgvsp: ENSP00000424174.1:p.Met318Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.952A>G
  hgvsp: ENSP00000423532.1:p.Met318Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.952A>G
  hgvsp: ENSP00000423526.1:p.Met318Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.682A>G
  hgvsp: ENSP00000422094.2:p.Met228Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.952A>G
  hgvsp: ENSP00000241436.4:p.Met318Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1862A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.682A>G
  hgvsp: ENSP00000369848.3:p.Met228Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.952A>G
  hgvsp: ENSP00000425075.1:p.Met318Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1075A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*793A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.754A>G
  hgvsp: ENSP00000421997.2:p.Met252Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*793A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1862A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met318Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

5-74879136-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879136
    reference: chr 5
allele count: 2
allele frequency: 1.651200422707308e-5
allele num: 121124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*794T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.683T>C
  hgvsp: ENSP00000422094.2:p.Met228Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.755T>C
  hgvsp: ENSP00000421997.2:p.Met252Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.953T>C
  hgvsp: ENSP00000423532.1:p.Met318Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.683T>C
  hgvsp: ENSP00000369848.3:p.Met228Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.953T>C
  hgvsp: ENSP00000423526.1:p.Met318Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.953T>C
  hgvsp: ENSP00000241436.4:p.Met318Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.953T>C
  hgvsp: ENSP00000425075.1:p.Met318Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1863T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*794T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.953T>C
  hgvsp: ENSP00000424174.1:p.Met318Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1863T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1076T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met318Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

5-74879144-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879144
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879144
    reference: chr 5
allele count: 3
allele frequency: 2.475656048852946e-5
allele num: 121180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.763A>G
  hgvsp: ENSP00000421997.2:p.Lys255Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*802A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.691A>G
  hgvsp: ENSP00000369848.3:p.Lys231Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.961A>G
  hgvsp: ENSP00000241436.4:p.Lys321Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1084A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.961A>G
  hgvsp: ENSP00000425075.1:p.Lys321Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.691A>G
  hgvsp: ENSP00000422094.2:p.Lys231Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.961A>G
  hgvsp: ENSP00000423526.1:p.Lys321Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.961A>G
  hgvsp: ENSP00000423532.1:p.Lys321Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.961A>G
  hgvsp: ENSP00000424174.1:p.Lys321Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*802A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1871A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1871A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys321Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS

5-74879154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879154
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879154
    reference: chr 5
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.971G>A
  hgvsp: ENSP00000425075.1:p.Ser324Asn
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.971G>A
  hgvsp: ENSP00000424174.1:p.Ser324Asn
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.773G>A
  hgvsp: ENSP00000421997.2:p.Ser258Asn
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1881G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.701G>A
  hgvsp: ENSP00000369848.3:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.971G>A
  hgvsp: ENSP00000423526.1:p.Ser324Asn
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.701G>A
  hgvsp: ENSP00000422094.2:p.Ser234Asn
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1094G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*812G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.971G>A
  hgvsp: ENSP00000241436.4:p.Ser324Asn
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.971G>A
  hgvsp: ENSP00000423532.1:p.Ser324Asn
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*812G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1881G>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser324Asn
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-74879156-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879156
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879156
    reference: chr 5
allele count: 4
allele frequency: 3.299948850792813e-5
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*814G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.775G>T
  hgvsp: ENSP00000421997.2:p.Asp259Tyr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.973G>T
  hgvsp: ENSP00000423526.1:p.Asp325Tyr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.703G>T
  hgvsp: ENSP00000422094.2:p.Asp235Tyr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.973G>T
  hgvsp: ENSP00000423532.1:p.Asp325Tyr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.973G>T
  hgvsp: ENSP00000425075.1:p.Asp325Tyr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*814G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.973G>T
  hgvsp: ENSP00000241436.4:p.Asp325Tyr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1883G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1883G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.973G>T
  hgvsp: ENSP00000424174.1:p.Asp325Tyr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1096G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.703G>T
  hgvsp: ENSP00000369848.3:p.Asp235Tyr
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp325Tyr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-74879157-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879157
    reference: chr 5
allele count: 2
allele frequency: 1.649756660892518e-5
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.974A>G
  hgvsp: ENSP00000241436.4:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.974A>G
  hgvsp: ENSP00000423532.1:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.974A>G
  hgvsp: ENSP00000423526.1:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1884A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.776A>G
  hgvsp: ENSP00000421997.2:p.Asp259Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.974A>G
  hgvsp: ENSP00000424174.1:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.704A>G
  hgvsp: ENSP00000369848.3:p.Asp235Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*815A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.974A>G
  hgvsp: ENSP00000425075.1:p.Asp325Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.704A>G
  hgvsp: ENSP00000422094.2:p.Asp235Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*815A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1097A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1884A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11439
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp325Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP

5-74879168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879168
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879168
    reference: chr 5
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.787C>T
  hgvsp: ENSP00000421997.2:p.Pro263Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*826C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.985C>T
  hgvsp: ENSP00000241436.4:p.Pro329Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1895C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.985C>T
  hgvsp: ENSP00000423532.1:p.Pro329Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.985C>T
  hgvsp: ENSP00000423526.1:p.Pro329Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.715C>T
  hgvsp: ENSP00000369848.3:p.Pro239Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1108C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.985C>T
  hgvsp: ENSP00000424174.1:p.Pro329Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*826C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.715C>T
  hgvsp: ENSP00000422094.2:p.Pro239Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.985C>T
  hgvsp: ENSP00000425075.1:p.Pro329Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1895C>T
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17757
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro329Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

5-74879175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879175
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879175
    reference: chr 5
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.722G>A
  hgvsp: ENSP00000422094.2:p.Gly241Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.992G>A
  hgvsp: ENSP00000423526.1:p.Gly331Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.794G>A
  hgvsp: ENSP00000421997.2:p.Gly265Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.992G>A
  hgvsp: ENSP00000424174.1:p.Gly331Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.992G>A
  hgvsp: ENSP00000423532.1:p.Gly331Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.722G>A
  hgvsp: ENSP00000369848.3:p.Gly241Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1115G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.992G>A
  hgvsp: ENSP00000425075.1:p.Gly331Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*833G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1902G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.992G>A
  hgvsp: ENSP00000241436.4:p.Gly331Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1902G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*833G>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly331Glu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

5-74879179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879179
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879179
    reference: chr 5
allele count: 2
allele frequency: 1.649348507339601e-5
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.726A>G
  hgvsp: ENST00000380481.3:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1119A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.996A>G
  hgvsp: ENST00000509126.1:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.996A>G
  hgvsp: ENST00000504026.1:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.726A>G
  hgvsp: ENST00000510815.2:c.726A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1906A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.798A>G
  hgvsp: ENST00000503479.2:c.798A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.996A>G
  hgvsp: ENST00000514141.1:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*837A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1906A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.996A>G
  hgvsp: ENST00000241436.4:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.996A>G
  hgvsp: ENST00000515295.1:c.996A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*837A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln332Gln
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

5-74879184-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879184
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879184
    reference: chr 5
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*842A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*842A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.803A>G
  hgvsp: ENSP00000421997.2:p.Gln268Arg
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.731A>G
  hgvsp: ENSP00000422094.2:p.Gln244Arg
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1911A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.731A>G
  hgvsp: ENSP00000369848.3:p.Gln244Arg
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1001A>G
  hgvsp: ENSP00000425075.1:p.Gln334Arg
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1001A>G
  hgvsp: ENSP00000423532.1:p.Gln334Arg
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1001A>G
  hgvsp: ENSP00000424174.1:p.Gln334Arg
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1001A>G
  hgvsp: ENSP00000241436.4:p.Gln334Arg
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1001A>G
  hgvsp: ENSP00000423526.1:p.Gln334Arg
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1911A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1124A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln334Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

5-74879186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879186
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879186
    reference: chr 5
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*844A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.805A>G
  hgvsp: ENSP00000421997.2:p.Ile269Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1003A>G
  hgvsp: ENSP00000424174.1:p.Ile335Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.733A>G
  hgvsp: ENSP00000369848.3:p.Ile245Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*844A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1003A>G
  hgvsp: ENSP00000241436.4:p.Ile335Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.733A>G
  hgvsp: ENSP00000422094.2:p.Ile245Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1003A>G
  hgvsp: ENSP00000425075.1:p.Ile335Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1003A>G
  hgvsp: ENSP00000423532.1:p.Ile335Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1913A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1126A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1913A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1003A>G
  hgvsp: ENSP00000423526.1:p.Ile335Val
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile335Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-74879189-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879189
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879189
    reference: chr 5
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.808C>T
  hgvsp: ENSP00000421997.2:p.Leu270Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*847C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.736C>T
  hgvsp: ENSP00000422094.2:p.Leu246Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1006C>T
  hgvsp: ENSP00000423532.1:p.Leu336Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1006C>T
  hgvsp: ENSP00000425075.1:p.Leu336Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1006C>T
  hgvsp: ENSP00000423526.1:p.Leu336Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1916C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1006C>T
  hgvsp: ENSP00000241436.4:p.Leu336Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1006C>T
  hgvsp: ENSP00000424174.1:p.Leu336Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1129C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1916C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.736C>T
  hgvsp: ENSP00000369848.3:p.Leu246Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*847C>T
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu336Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD

5-74879197-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879197
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879197
    reference: chr 5
allele count: 9
allele frequency: 7.423047738444789e-5
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1014T>A
  hgvsp: ENSP00000423526.1:p.Asn338Lys
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.816T>A
  hgvsp: ENSP00000421997.2:p.Asn272Lys
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*855T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1014T>A
  hgvsp: ENSP00000241436.4:p.Asn338Lys
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1014T>A
  hgvsp: ENSP00000423532.1:p.Asn338Lys
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1924T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.744T>A
  hgvsp: ENSP00000422094.2:p.Asn248Lys
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.744T>A
  hgvsp: ENSP00000369848.3:p.Asn248Lys
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*855T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1014T>A
  hgvsp: ENSP00000424174.1:p.Asn338Lys
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1137T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1014T>A
  hgvsp: ENSP00000425075.1:p.Asn338Lys
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1924T>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn338Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-74879197-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879197
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879197
    reference: chr 5
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1137T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1014T>C
  hgvsp: ENST00000504026.1:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*855T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1014T>C
  hgvsp: ENST00000241436.4:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1014T>C
  hgvsp: ENST00000514141.1:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*855T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.744T>C
  hgvsp: ENST00000380481.3:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1014T>C
  hgvsp: ENST00000509126.1:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.744T>C
  hgvsp: ENST00000510815.2:c.744T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1924T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1014T>C
  hgvsp: ENST00000515295.1:c.1014T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.816T>C
  hgvsp: ENST00000503479.2:c.816T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1924T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn338Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

5-74879224-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879224
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879224
    reference: chr 5
allele count: 6
allele frequency: 4.958759648919817e-5
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1041G>A
  hgvsp: ENST00000241436.4:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1041G>A
  hgvsp: ENST00000509126.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1951G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*882G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.843G>A
  hgvsp: ENST00000503479.2:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.771G>A
  hgvsp: ENST00000510815.2:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1041G>A
  hgvsp: ENST00000515295.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1951G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1041G>A
  hgvsp: ENST00000514141.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.771G>A
  hgvsp: ENST00000380481.3:c.771G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1164G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1041G>A
  hgvsp: ENST00000504026.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*882G>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11455
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Lys347Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-74879226-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879226
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879226
    reference: chr 5
allele count: 7
allele frequency: 5.791729410401946e-5
allele num: 120862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1953A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.845A>G
  hgvsp: ENSP00000421997.2:p.Asp282Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*884A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1043A>G
  hgvsp: ENSP00000424174.1:p.Asp348Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1043A>G
  hgvsp: ENSP00000423532.1:p.Asp348Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1953A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1043A>G
  hgvsp: ENSP00000423526.1:p.Asp348Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1166A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*884A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.773A>G
  hgvsp: ENSP00000369848.3:p.Asp258Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.773A>G
  hgvsp: ENSP00000422094.2:p.Asp258Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1043A>G
  hgvsp: ENSP00000241436.4:p.Asp348Gly
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1043A>G
  hgvsp: ENSP00000425075.1:p.Asp348Gly
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp348Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

5-74879231-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879231
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879231
    reference: chr 5
allele count: 18
allele frequency: 1.491523176612917e-4
allele num: 120682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1048C>G
  hgvsp: ENSP00000425075.1:p.Pro350Ala
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.850C>G
  hgvsp: ENSP00000421997.2:p.Pro284Ala
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*889C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1048C>G
  hgvsp: ENSP00000423532.1:p.Pro350Ala
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1048C>G
  hgvsp: ENSP00000424174.1:p.Pro350Ala
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1048C>G
  hgvsp: ENSP00000423526.1:p.Pro350Ala
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.778C>G
  hgvsp: ENSP00000422094.2:p.Pro260Ala
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1171C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.778C>G
  hgvsp: ENSP00000369848.3:p.Pro260Ala
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1048C>G
  hgvsp: ENSP00000241436.4:p.Pro350Ala
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1958C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1958C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*889C>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Pro350Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

5-74879231-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879231
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879231
    reference: chr 5
allele count: 1
allele frequency: 8.286239870071759e-6
allele num: 120682
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1048C>T
  hgvsp: ENSP00000425075.1:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1048C>T
  hgvsp: ENSP00000241436.4:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*889C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1958C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1048C>T
  hgvsp: ENSP00000423532.1:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*889C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.778C>T
  hgvsp: ENSP00000369848.3:p.Pro260Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1048C>T
  hgvsp: ENSP00000424174.1:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.850C>T
  hgvsp: ENSP00000421997.2:p.Pro284Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1048C>T
  hgvsp: ENSP00000423526.1:p.Pro350Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1171C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.778C>T
  hgvsp: ENSP00000422094.2:p.Pro260Ser
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1958C>T
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6818
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro350Ser
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

5-74879234-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879234
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879234
    reference: chr 5
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1051A>G
  hgvsp: ENSP00000425075.1:p.Ile351Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1051A>G
  hgvsp: ENSP00000424174.1:p.Ile351Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1961A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.781A>G
  hgvsp: ENSP00000369848.3:p.Ile261Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1051A>G
  hgvsp: ENSP00000241436.4:p.Ile351Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1051A>G
  hgvsp: ENSP00000423526.1:p.Ile351Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1961A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1051A>G
  hgvsp: ENSP00000423532.1:p.Ile351Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1174A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.781A>G
  hgvsp: ENSP00000422094.2:p.Ile261Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.853A>G
  hgvsp: ENSP00000421997.2:p.Ile285Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*892A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*892A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile351Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-74879246-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879246
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879246
    reference: chr 5
allele count: 1
allele frequency: 8.377314233056882e-6
allele num: 119370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1973A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+4A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1973A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+4A>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1059+4A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

5-74879250-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879250
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879250
    reference: chr 5
allele count: 1
allele frequency: 8.400961069946402e-6
allele num: 119034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1977T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+8T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1977T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+8T>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6780
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1059+8T>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum

5-74879256-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879256
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879256
    reference: chr 5
allele count: 1
allele frequency: 8.447372867038351e-6
allele num: 118380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1983A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1983A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+14A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+14A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16474
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-74879258-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879258
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879258
    reference: chr 5
allele count: 1
allele frequency: 8.453514125822104e-6
allele num: 118294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1985A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1985A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+16A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+16A>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

5-74879261-GTTTA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879261
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879257
    reference: chr 5
allele count: 1
allele frequency: 8.477162524159914e-6
allele num: 117964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+25_789+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+25_1059+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+25_1059+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+25_789+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1994_934+1997delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+25_*900+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+25_861+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+25_1059+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+25_1059+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+25_1182+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+25_*900+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+25_1059+28delTTAT
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1994_934+1997delTTAT
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: GTTTA
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

5-74879268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879268
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879268
    reference: chr 5
allele count: 1
allele frequency: 8.513826454161559e-6
allele num: 117456
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+26T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+1995T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+1995T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+26T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10076
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-74879273-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879273
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879273
    reference: chr 5
allele count: 1
allele frequency: 8.546570261354118e-6
allele num: 117006
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+2000A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+2000A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+31A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+31A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9636
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6484
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5001
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

5-74879274-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879274
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879274
    reference: chr 5
allele count: 1
allele frequency: 8.544671542825894e-6
allele num: 117032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+32T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+2001T>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+2001T>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9603
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

5-74879280-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74879280
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74879280
    reference: chr 5
allele count: 2
allele frequency: 1.721466689619556e-5
allele num: 116180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.789+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*900+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+2007C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.789+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1059+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1059+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+2007C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*900+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1182+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.861+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1059+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1059+38C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1059+38C>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

5-74880537-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880537
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880537
    reference: chr 5
allele count: 1
allele frequency: 3.138534931893792e-5
allele num: 31862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1060-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3264T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.862-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1183-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*901-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3264T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1060-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.790-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*901-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1060-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.790-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1060-48T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1060-48T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19511
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

5-74880544-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880544
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880544
    reference: chr 5
allele count: 35
allele frequency: 1.084195526919026e-3
allele num: 32282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*901-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1183-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3271A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.790-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1060-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1060-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3271A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*901-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.862-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1060-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1060-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.790-41A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1060-41A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23731
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18573
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8647
  bin: 1.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

5-74880545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880545
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880545
    reference: chr 5
allele count: 1
allele frequency: 3.071064430931761e-5
allele num: 32562
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3272C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*901-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3272C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1060-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1060-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*901-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1060-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.790-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.790-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.862-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1183-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1060-40C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1060-40C>T
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18344
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-74880546-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880546
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880546
    reference: chr 5
allele count: 1
allele frequency: 3.034717164360282e-5
allele num: 32952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3273T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1060-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1060-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1183-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*901-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*901-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.790-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.862-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1060-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1060-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1060-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.790-39T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3273T>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8668
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-74880554-CTAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880554
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880551
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 34012
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1060-28_1060-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1060-28_1060-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1060-28_1060-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.790-28_790-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3284_934+3286delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*901-28_*901-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1183-28_1183-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1060-28_1060-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.790-28_790-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*901-28_*901-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.862-28_862-26delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3284_934+3286delTTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1060-28_1060-26delTTA
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 8272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27109
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: CTAT
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

5-74880570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880570
    reference: chr 5
allele count: 1
allele frequency: 2.122781693130678e-5
allele num: 47108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1183-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.790-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1060-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3297T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1060-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1060-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.790-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*901-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.862-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1060-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1060-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*901-15T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3297T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-74880578-TTTCTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880578
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880573
    reference: chr 5
allele count: 3
allele frequency: 4.689258471926972e-5
allele num: 63976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1060-6_1060-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.790-6_790-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*901-6_*901-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1060-6_1060-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*901-6_*901-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1183-6_1183-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1060-6_1060-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3306_934+3310delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.790-6_790-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1060-6_1060-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.862-6_862-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3306_934+3310delTTCTA
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1060-6_1060-2delTTCTA
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22174
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1060-6_1060-2delTTCTA
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: TTTCTA
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-74880582-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880582
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880582
    reference: chr 5
allele count: 2
allele frequency: 2.649006622516556e-5
allele num: 75500
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.862-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*901-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*901-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1060-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.790-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.790-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1060-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3309T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1183-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1060-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1060-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1060-3T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3309T>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1060-3T>G
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: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

5-74880599-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880599
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880599
    reference: chr 5
allele count: 3
allele frequency: 2.853935577160905e-5
allele num: 105118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1074A>G
  hgvsp: ENST00000515295.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1074A>G
  hgvsp: ENST00000241436.4:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3326A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*915A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1074A>G
  hgvsp: ENST00000504026.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3326A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1074A>G
  hgvsp: ENST00000514141.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.876A>G
  hgvsp: ENST00000503479.2:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1197A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1074A>G
  hgvsp: ENST00000509126.1:c.1074A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*915A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.804A>G
  hgvsp: ENST00000510815.2:c.804A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.804A>G
  hgvsp: ENST00000380481.3:c.804A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly358Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

5-74880608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880608
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880608
    reference: chr 5
allele count: 4
allele frequency: 3.543021134121065e-5
allele num: 112898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.813A>G
  hgvsp: ENST00000380481.3:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1083A>G
  hgvsp: ENST00000504026.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1083A>G
  hgvsp: ENST00000509126.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*924A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1083A>G
  hgvsp: ENST00000515295.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.885A>G
  hgvsp: ENST00000503479.2:c.885A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*924A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1083A>G
  hgvsp: ENST00000514141.1:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.813A>G
  hgvsp: ENST00000510815.2:c.813A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3335A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1083A>G
  hgvsp: ENST00000241436.4:c.1083A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1206A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3335A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45017
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr361Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

5-74880611-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880611
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880611
    reference: chr 5
allele count: 1
allele frequency: 8.723263198297218e-6
allele num: 114636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1086G>T
  hgvsp: ENSP00000425075.1:p.Glu362Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*927G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1086G>T
  hgvsp: ENSP00000241436.4:p.Glu362Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.816G>T
  hgvsp: ENSP00000422094.2:p.Glu272Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1086G>T
  hgvsp: ENSP00000423532.1:p.Glu362Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.888G>T
  hgvsp: ENSP00000421997.2:p.Glu296Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*927G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.816G>T
  hgvsp: ENSP00000369848.3:p.Glu272Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1086G>T
  hgvsp: ENSP00000424174.1:p.Glu362Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1086G>T
  hgvsp: ENSP00000423526.1:p.Glu362Asp
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1209G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3338G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3338G>T
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu362Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-74880613-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880613
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880613
    reference: chr 5
allele count: 1
allele frequency: 8.649321893163576e-6
allele num: 115616
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.890A>C
  hgvsp: ENSP00000421997.2:p.Lys297Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1088A>C
  hgvsp: ENSP00000423526.1:p.Lys363Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.818A>C
  hgvsp: ENSP00000369848.3:p.Lys273Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.818A>C
  hgvsp: ENSP00000422094.2:p.Lys273Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1088A>C
  hgvsp: ENSP00000241436.4:p.Lys363Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1088A>C
  hgvsp: ENSP00000425075.1:p.Lys363Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*929A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1211A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1088A>C
  hgvsp: ENSP00000423532.1:p.Lys363Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1088A>C
  hgvsp: ENSP00000424174.1:p.Lys363Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*929A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3340A>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3340A>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys363Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

5-74880616-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880616
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880616
    reference: chr 5
allele count: 5
allele frequency: 4.279576150778027e-5
allele num: 116834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1091T>C
  hgvsp: ENSP00000425075.1:p.Met364Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1091T>C
  hgvsp: ENSP00000424174.1:p.Met364Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*932T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.821T>C
  hgvsp: ENSP00000369848.3:p.Met274Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.821T>C
  hgvsp: ENSP00000422094.2:p.Met274Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3343T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1091T>C
  hgvsp: ENSP00000423526.1:p.Met364Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*932T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1091T>C
  hgvsp: ENSP00000241436.4:p.Met364Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3343T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1091T>C
  hgvsp: ENSP00000423532.1:p.Met364Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.893T>C
  hgvsp: ENSP00000421997.2:p.Met298Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1214T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met364Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-74880620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880620
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880620
    reference: chr 5
allele count: 1
allele frequency: 8.467543904215143e-6
allele num: 118098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.897A>G
  hgvsp: ENST00000503479.2:c.897A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1095A>G
  hgvsp: ENST00000514141.1:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*936A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1095A>G
  hgvsp: ENST00000504026.1:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3347A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.825A>G
  hgvsp: ENST00000380481.3:c.825A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1095A>G
  hgvsp: ENST00000241436.4:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*936A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.825A>G
  hgvsp: ENST00000510815.2:c.825A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1095A>G
  hgvsp: ENST00000515295.1:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1218A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1095A>G
  hgvsp: ENST00000509126.1:c.1095A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3347A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu365Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

5-74880624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880624
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880624
    reference: chr 5
allele count: 2
allele frequency: 1.680644022789533e-5
allele num: 119002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1099G>A
  hgvsp: ENSP00000423532.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1099G>A
  hgvsp: ENSP00000425075.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1099G>A
  hgvsp: ENSP00000423526.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1099G>A
  hgvsp: ENSP00000424174.1:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3351G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1099G>A
  hgvsp: ENSP00000241436.4:p.Ala367Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.901G>A
  hgvsp: ENSP00000421997.2:p.Ala301Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.829G>A
  hgvsp: ENSP00000369848.3:p.Ala277Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*940G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3351G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.829G>A
  hgvsp: ENSP00000422094.2:p.Ala277Thr
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*940G>A
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1222G>A
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala367Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

5-74880629-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880629
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880629
    reference: chr 5
allele count: 3
allele frequency: 2.50325423049965e-5
allele num: 119844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.834T>G
  hgvsp: ENST00000510815.2:c.834T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.906T>G
  hgvsp: ENST00000503479.2:c.906T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1104T>G
  hgvsp: ENST00000509126.1:c.1104T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3356T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.834T>G
  hgvsp: ENST00000380481.3:c.834T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1104T>G
  hgvsp: ENST00000504026.1:c.1104T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1104T>G
  hgvsp: ENST00000241436.4:c.1104T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3356T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*945T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1227T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1104T>G
  hgvsp: ENST00000515295.1:c.1104T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*945T>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1104T>G
  hgvsp: ENST00000514141.1:c.1104T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu368Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-74880636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880636
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880636
    reference: chr 5
allele count: 9
allele frequency: 7.470491558344539e-5
allele num: 120474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3363A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1111A>G
  hgvsp: ENSP00000425075.1:p.Ile371Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.913A>G
  hgvsp: ENSP00000421997.2:p.Ile305Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1111A>G
  hgvsp: ENSP00000424174.1:p.Ile371Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3363A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1111A>G
  hgvsp: ENSP00000423532.1:p.Ile371Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1111A>G
  hgvsp: ENSP00000423526.1:p.Ile371Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.841A>G
  hgvsp: ENSP00000422094.2:p.Ile281Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1111A>G
  hgvsp: ENSP00000241436.4:p.Ile371Val
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*952A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*952A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1234A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.841A>G
  hgvsp: ENSP00000369848.3:p.Ile281Val
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6850
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile371Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

5-74880643-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880643
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880643
    reference: chr 5
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.848G>T
  hgvsp: ENSP00000369848.3:p.Cys283Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1241G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1118G>T
  hgvsp: ENSP00000424174.1:p.Cys373Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*959G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1118G>T
  hgvsp: ENSP00000241436.4:p.Cys373Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1118G>T
  hgvsp: ENSP00000423526.1:p.Cys373Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*959G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1118G>T
  hgvsp: ENSP00000423532.1:p.Cys373Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.920G>T
  hgvsp: ENSP00000421997.2:p.Cys307Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1118G>T
  hgvsp: ENSP00000425075.1:p.Cys373Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3370G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3370G>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.848G>T
  hgvsp: ENSP00000422094.2:p.Cys283Phe
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys373Phe
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-74880648-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880648
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880648
    reference: chr 5
allele count: 7
allele frequency: 5.7878026193941e-5
allele num: 120944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3375G>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1123G>C
  hgvsp: ENSP00000423526.1:p.Glu375Gln
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.925G>C
  hgvsp: ENSP00000421997.2:p.Glu309Gln
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1123G>C
  hgvsp: ENSP00000424174.1:p.Glu375Gln
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1246G>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*964G>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1123G>C
  hgvsp: ENSP00000241436.4:p.Glu375Gln
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.853G>C
  hgvsp: ENSP00000369848.3:p.Glu285Gln
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.853G>C
  hgvsp: ENSP00000422094.2:p.Glu285Gln
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1123G>C
  hgvsp: ENSP00000425075.1:p.Glu375Gln
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1123G>C
  hgvsp: ENSP00000423532.1:p.Glu375Gln
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3375G>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*964G>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu375Gln
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

5-74880657-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880657
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880657
    reference: chr 5
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*973C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.934C>G
  hgvsp: ENSP00000421997.2:p.Gln312Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1132C>G
  hgvsp: ENSP00000241436.4:p.Gln378Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1132C>G
  hgvsp: ENSP00000423532.1:p.Gln378Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3384C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1132C>G
  hgvsp: ENSP00000425075.1:p.Gln378Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.862C>G
  hgvsp: ENSP00000369848.3:p.Gln288Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1132C>G
  hgvsp: ENSP00000424174.1:p.Gln378Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3384C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1132C>G
  hgvsp: ENSP00000423526.1:p.Gln378Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1255C>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.862C>G
  hgvsp: ENSP00000422094.2:p.Gln288Glu
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*973C>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7030
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln378Glu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

5-74880659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880659
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880659
    reference: chr 5
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.936A>G
  hgvsp: ENST00000503479.2:c.936A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.864A>G
  hgvsp: ENST00000510815.2:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1134A>G
  hgvsp: ENST00000241436.4:c.1134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1134A>G
  hgvsp: ENST00000514141.1:c.1134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1134A>G
  hgvsp: ENST00000509126.1:c.1134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3386A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1134A>G
  hgvsp: ENST00000515295.1:c.1134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1134A>G
  hgvsp: ENST00000504026.1:c.1134A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.864A>G
  hgvsp: ENST00000380481.3:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3386A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*975A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1257A>G
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*975A>G
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln378Gln
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

2-241500104-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241500104
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241500104
    reference: chr 2
allele count: 2
allele frequency: 2.6139007240505e-5
allele num: 76514
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404337
  ensembl transcript: ENST00000411765
  gene symbol: ANKMY1
  hgvsc: ENST00000411765.1:c.-334+44C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.220+44C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.-122+44C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.361+44C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.39+44C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000188542
  ensembl protein: ENSP00000344235
  ensembl transcript: ENST00000343217
  gene symbol: DUSP28
  hgvsc: ENST00000343217.2:c.3G>C
  hgvsp: ENSP00000344235.2:p.Met1?
  variant of: http://identifiers.org/hgnc/33237
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.5+349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.46+44C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.38+44C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000188542
  ensembl protein: ENSP00000385885
  ensembl transcript: ENST00000405954
  gene symbol: DUSP28
  hgvsc: ENST00000405954.1:c.3G>C
  hgvsp: ENSP00000385885.1:p.Met1?
  variant of: http://identifiers.org/hgnc/33237
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.5+349C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000464991
  gene symbol: ANKMY1
  hgvsc: ENST00000464991.1:n.715+44C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000412094
  ensembl transcript: ENST00000418505
  gene symbol: ANKMY1
  hgvsc: ENST00000418505.1:c.-121-5632C>G
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.-121-5632C>G
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24091
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

2-241500105-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 241500105
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 241500105
    reference: chr 2
allele count: 1
allele frequency: 1.304529325819244e-5
allele num: 76656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404337
  ensembl transcript: ENST00000411765
  gene symbol: ANKMY1
  hgvsc: ENST00000411765.1:c.-334+43C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188542
  ensembl protein: ENSP00000344235
  ensembl transcript: ENST00000343217
  gene symbol: DUSP28
  hgvsc: ENST00000343217.2:c.4G>A
  hgvsp: ENSP00000344235.2:p.Gly2Arg
  variant of: http://identifiers.org/hgnc/33237
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000404095
  ensembl transcript: ENST00000443318
  gene symbol: ANKMY1
  hgvsc: ENST00000443318.1:c.46+43C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000385145
  ensembl transcript: ENST00000405002
  gene symbol: ANKMY1
  hgvsc: ENST00000405002.1:c.-122+43C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000407015
  ensembl transcript: ENST00000418708
  gene symbol: ANKMY1
  hgvsc: ENST00000418708.1:c.-121-5633C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000464991
  gene symbol: ANKMY1
  hgvsc: ENST00000464991.1:n.715+43C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000383968
  ensembl transcript: ENST00000403283
  gene symbol: ANKMY1
  hgvsc: ENST00000403283.1:c.220+43C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000496300
  gene symbol: ANKMY1
  hgvsc: ENST00000496300.1:n.38+43C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000484526
  gene symbol: ANKMY1
  hgvsc: ENST00000484526.1:n.361+43C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000412094
  ensembl transcript: ENST00000418505
  gene symbol: ANKMY1
  hgvsc: ENST00000418505.1:c.-121-5633C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188542
  ensembl protein: ENSP00000385885
  ensembl transcript: ENST00000405954
  gene symbol: DUSP28
  hgvsc: ENST00000405954.1:c.4G>A
  hgvsp: ENSP00000385885.1:p.Gly2Arg
  variant of: http://identifiers.org/hgnc/33237
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000405938
  ensembl transcript: ENST00000441168
  gene symbol: ANKMY1
  hgvsc: ENST00000441168.1:c.5+348C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl protein: ENSP00000444707
  ensembl transcript: ENST00000536462
  gene symbol: ANKMY1
  hgvsc: ENST00000536462.1:c.5+348C>T
  variant of: http://identifiers.org/hgnc/20987
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000144504
  ensembl transcript: ENST00000462004
  gene symbol: ANKMY1
  hgvsc: ENST00000462004.1:n.39+43C>T
  variant of: http://identifiers.org/hgnc/20987
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly2Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-74880673-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880673
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880673
    reference: chr 5
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3400T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1148T>C
  hgvsp: ENSP00000423532.1:p.Leu383Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1148T>C
  hgvsp: ENSP00000425075.1:p.Leu383Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.950T>C
  hgvsp: ENSP00000421997.2:p.Leu317Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1148T>C
  hgvsp: ENSP00000423526.1:p.Leu383Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1148T>C
  hgvsp: ENSP00000424174.1:p.Leu383Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.878T>C
  hgvsp: ENSP00000422094.2:p.Leu293Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*989T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1271T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1148T>C
  hgvsp: ENSP00000241436.4:p.Leu383Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.878T>C
  hgvsp: ENSP00000369848.3:p.Leu293Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3400T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*989T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu383Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-74880687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880687
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880687
    reference: chr 5
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3414T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1162T>C
  hgvsp: ENSP00000423532.1:p.Ser388Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.892T>C
  hgvsp: ENSP00000369848.3:p.Ser298Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1162T>C
  hgvsp: ENSP00000241436.4:p.Ser388Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1162T>C
  hgvsp: ENSP00000424174.1:p.Ser388Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1285T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*1003T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1162T>C
  hgvsp: ENSP00000425075.1:p.Ser388Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.964T>C
  hgvsp: ENSP00000421997.2:p.Ser322Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1162T>C
  hgvsp: ENSP00000423526.1:p.Ser388Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*1003T>C
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.892T>C
  hgvsp: ENSP00000422094.2:p.Ser298Pro
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3414T>C
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser388Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

5-74880688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 74880688
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 74880688
    reference: chr 5
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000420997
  ensembl transcript: ENST00000511527
  gene symbol: POLK
  hgvsc: ENST00000511527.1:c.*1004C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000421997
  ensembl transcript: ENST00000503479
  gene symbol: POLK
  hgvsc: ENST00000503479.2:c.965C>T
  hgvsp: ENSP00000421997.2:p.Ser322Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424174
  ensembl transcript: ENST00000515295
  gene symbol: POLK
  hgvsc: ENST00000515295.1:c.1163C>T
  hgvsp: ENSP00000424174.1:p.Ser388Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000422094
  ensembl transcript: ENST00000510815
  gene symbol: POLK
  hgvsc: ENST00000510815.2:c.893C>T
  hgvsp: ENSP00000422094.2:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423526
  ensembl transcript: ENST00000514141
  gene symbol: POLK
  hgvsc: ENST00000514141.1:c.1163C>T
  hgvsp: ENSP00000423526.1:p.Ser388Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000342256
  ensembl transcript: ENST00000352007
  gene symbol: POLK
  hgvsc: ENST00000352007.5:c.934+3415C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000425075
  ensembl transcript: ENST00000504026
  gene symbol: POLK
  hgvsc: ENST00000504026.1:c.1163C>T
  hgvsp: ENSP00000425075.1:p.Ser388Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000241436
  ensembl transcript: ENST00000241436
  gene symbol: POLK
  hgvsc: ENST00000241436.4:c.1163C>T
  hgvsp: ENSP00000241436.4:p.Ser388Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000423532
  ensembl transcript: ENST00000509126
  gene symbol: POLK
  hgvsc: ENST00000509126.1:c.1163C>T
  hgvsp: ENSP00000423532.1:p.Ser388Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000369848
  ensembl transcript: ENST00000380481
  gene symbol: POLK
  hgvsc: ENST00000380481.3:c.893C>T
  hgvsp: ENSP00000369848.3:p.Ser298Phe
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000424859
  ensembl transcript: ENST00000505975
  gene symbol: POLK
  hgvsc: ENST00000505975.1:c.*1004C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122008
  ensembl protein: ENSP00000426853
  ensembl transcript: ENST00000508526
  gene symbol: POLK
  hgvsc: ENST00000508526.1:c.934+3415C>T
  variant of: http://identifiers.org/hgnc/9183
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122008
  ensembl transcript: ENST00000506928
  gene symbol: POLK
  hgvsc: ENST00000506928.1:n.1286C>T
  variant of: http://identifiers.org/hgnc/9183
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser388Phe
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 11274
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1089
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 708
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2764
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20524
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516208266367468e-5
allele num: 65954
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.052816e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e0

QD
type: SiteQuality
SIO_000300: 1.566e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 2.793e0

VQSLOD
type: SiteQuality
SIO_000300: -7.324000000000001e-1

GenotypeDepth
all individuals: 6812
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4459
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6575
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1028
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14328
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3545
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1785
bin: 8.75e1
variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.577364895583912e-5
allele num: 65986
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 3.364e0

QD
type: SiteQuality
SIO_000300: 1.344e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

DP
type: SiteQuality
SIO_000300: 2.056371e6

GenotypeDepth
all individuals: 9294
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1701
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2793
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20950
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

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

South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.424756766586852e-4
allele num: 65986
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Latino
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Other
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East Asian
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VQSLOD
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InbreedingCoeff
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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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European (Non-Finnish)
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allele frequency: 1.510574018126888e-5
allele num: 66200
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Latino
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East Asian
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African
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Other
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FS
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
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Latino
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African
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South Asian
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East Asian
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European (Finnish)
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ReadPosRankSum
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DP
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MQ
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QD
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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DP
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FS
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QD
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ClippingRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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East Asian
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African
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MQ
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QD
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VQSLOD
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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Latino
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Other
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African
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allele num: 10370
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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MQ
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DP
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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allele num: 66460
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele num: 11554
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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MQRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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European (Non-Finnish)
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African
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South Asian
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Other
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Latino
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DP
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QD
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InbreedingCoeff
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MQ
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FS
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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East Asian
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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DP
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Latino
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African
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Other
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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African
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East Asian
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DP
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GenotypeQuality
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African
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South Asian
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MQ
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VQSLOD
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DP
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East Asian
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European (Finnish)
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MQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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African
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East Asian
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VQSLOD
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DP
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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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

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

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

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

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
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

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

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

FS
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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SIO_000300: 2.098011e6

GenotypeDepth
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variant carriers: 1

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

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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 count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

MQ
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SIO_000300: 5.973e1

MQRankSum
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QD
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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DP
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FS
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SIO_000300: 3.345e0

InbreedingCoeff
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SIO_000300: 2.0e-4

ReadPosRankSum
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SIO_000300: 1.56e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.001290554938624e-5
allele num: 66638
num of homozygotes: 0

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

Other
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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
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num of homozygotes: 0

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

African
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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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BaseQRankSum
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SIO_000300: -2.373e0

FS
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ReadPosRankSum
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DP
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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SIO_000300: 1.3e1

MQ
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SIO_000300: 5.982e1

VQSLOD
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SIO_000300: 1.1e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

Other
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num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.455868089233754e-4
allele num: 16496
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

East Asian
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South Asian
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European (Finnish)
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Latino
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Other
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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East Asian
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allele frequency: 8.096229470275272e-4
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.93e0

DP
type: SiteQuality
SIO_000300: 2.092537e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.7e-1

QD
type: SiteQuality
SIO_000300: 1.243e1

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeDepth
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bin: 7.25e1
variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 1

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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bin: 9.75e1
variant carriers: 18

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3540
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.082851191853737e-3
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
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SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 2.089756e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 8.31e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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
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variant carriers: 1

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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66462
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.62e-1

DP
type: SiteQuality
SIO_000300: 2.089756e6

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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
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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
all individuals: 4242
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variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16098
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66428
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.503e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 2.085304e6

BaseQRankSum
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SIO_000300: 4.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.124e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1882
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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
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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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GenotypeQuality
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GenotypeQuality
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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
all individuals: 2806
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15538
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-5
allele num: 66060
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.035e0

BaseQRankSum
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SIO_000300: -3.128e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.02e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

QD
type: SiteQuality
SIO_000300: 1.212e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-3

DP
type: SiteQuality
SIO_000300: 2.060268e6

GenotypeDepth
all individuals: 330
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 812
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variant carriers: 0

GenotypeDepth
all individuals: 1078
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1676
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516576177621402e-5
allele num: 65938
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.94e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.68e-1

BaseQRankSum
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SIO_000300: 1.77e0

GenotypeDepth
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variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15190
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1778
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 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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East Asian
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele num: 65470
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Other
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Latino
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MQRankSum
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FS
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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MQRankSum
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DP
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Other
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South Asian
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European (Finnish)
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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European (Finnish)
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Other
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East Asian
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num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.53979e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 1.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

ClippingRankSum
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SIO_000300: 2.83e-1

FS
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InbreedingCoeff
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SIO_000300: -2.86e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
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SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.946e1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 1

Latino
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allele count: 2
allele frequency: 8.77963125548727e-4
allele num: 2278
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1034
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 342
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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2106
num of homozygotes: 0

African
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allele count: 33
allele frequency: 7.155247181266262e-3
allele num: 4612
num of homozygotes: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 17462
num of homozygotes: 0

MQRankSum
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.71e-2

MQ
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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SIO_000300: -2.29e-1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.699304684828451e-5
allele num: 17546
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 2324
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2118
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 4.02e0

ClippingRankSum
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SIO_000300: -5.51e-1

MQ
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SIO_000300: 6.0e1

DP
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MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

BaseQRankSum
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FS
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VQSLOD
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SIO_000300: -2.666e0

InbreedingCoeff
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SIO_000300: -2.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.51e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.172024326672459e-4
allele num: 4604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.79778e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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QD
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MQ
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SIO_000300: 6.0e1

VQSLOD
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SIO_000300: -1.943e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

BaseQRankSum
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SIO_000300: -1.932e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.186e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.67e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2222
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 18272
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4780
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
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SIO_000300: 6.21652e5

MQ
type: SiteQuality
SIO_000300: 5.018e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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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

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

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.014129736673089e-5
allele num: 24912
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 2
allele frequency: 2.735229759299781e-4
allele num: 7312
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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 33524
num of homozygotes: 0

South Asian
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allele frequency: 1.171508903467666e-4
allele num: 8536
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 5644
num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 3.720238095238095e-4
allele num: 5376
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

East Asian
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allele frequency: 3.985122210414452e-4
allele num: 7528
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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
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Latino
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allele frequency: 0.0e0
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African
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MQRankSum
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SIO_000300: -8.500000000000001e-2

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele count: 2
allele frequency: 1.29366106080207e-4
allele num: 15460
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.265306122448979e-5
allele num: 61250
num of homozygotes: 0

Other
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele num: 8136
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African
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Latino
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Other
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European (Non-Finnish)
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South Asian
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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MQ
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QD
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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African
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South Asian
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DP
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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Latino
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East Asian
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South Asian
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MQRankSum
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InbreedingCoeff
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DP
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QD
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FS
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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African
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allele frequency: 9.763718023823472e-5
allele num: 10242
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele 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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European (Non-Finnish)
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allele frequency: 3.067014261616316e-5
allele num: 65210
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Other
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South Asian
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African
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Latino
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele num: 900
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.8310546875e-4
allele num: 16384
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Latino
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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SIO_000300: 3.77e0

ReadPosRankSum
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SIO_000300: -1.26e-1

ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.469794578825817e-4
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66150
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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DP
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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ClippingRankSum
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QD
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VQSLOD
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BaseQRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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QD
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DP
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MQ
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

Latino
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Other
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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DP
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MQRankSum
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BaseQRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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Other
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Latino
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European (Non-Finnish)
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African
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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