2-113321944-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321944
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321944
    reference: chr 2
allele count: 1164
allele frequency: 9.595726439358966e-3
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.179G>C
  hgvsp: ENSP00000390274.1:p.Gly60Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1160G>C
  hgvsp: ENSP00000387143.3:p.Gly387Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1484G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.981G>C
  hgvsp: ENST00000537335.1:c.981G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1728G>C
  hgvsp: ENST00000541869.1:c.1728G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.54G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1446G>C
  hgvsp: ENST00000417433.2:c.1446G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1614G>C
  hgvsp: ENST00000263331.5:c.1614G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.6G>C
  hgvsp: ENST00000458012.2:c.6G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 9.75e1
  variant carriers: 508
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 7371
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 8.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 5.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 7.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 6.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly60Ala
num of homozygotes: 76
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-113321945-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321945
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321945
    reference: chr 2
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1615G>T
  hgvsp: ENSP00000263331.5:p.Val539Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.180G>T
  hgvsp: ENST00000448770.1:c.180G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1729G>T
  hgvsp: ENSP00000444136.1:p.Val577Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.982G>T
  hgvsp: ENSP00000437914.1:p.Val328Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1447G>T
  hgvsp: ENSP00000405358.2:p.Val483Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1485G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.7G>T
  hgvsp: ENSP00000394408.2:p.Val3Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1161G>T
  hgvsp: ENST00000409894.3:c.1161G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.55G>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val539Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-113321947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321947
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321947
    reference: chr 2
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1731C>T
  hgvsp: ENST00000541869.1:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.182C>T
  hgvsp: ENSP00000390274.1:p.Ser61Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1163C>T
  hgvsp: ENSP00000387143.3:p.Ser388Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.9C>T
  hgvsp: ENST00000458012.2:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1449C>T
  hgvsp: ENST00000417433.2:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1617C>T
  hgvsp: ENST00000263331.5:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.984C>T
  hgvsp: ENST00000537335.1:c.984C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.57C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1487C>T
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser61Leu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-113321949-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321949
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321949
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.986C>T
  hgvsp: ENSP00000437914.1:p.Thr329Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1451C>T
  hgvsp: ENSP00000405358.2:p.Thr484Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1733C>T
  hgvsp: ENSP00000444136.1:p.Thr578Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.184C>T
  hgvsp: ENSP00000390274.1:p.Leu62Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1489C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.11C>T
  hgvsp: ENSP00000394408.2:p.Thr4Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1619C>T
  hgvsp: ENSP00000263331.5:p.Thr540Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1165C>T
  hgvsp: ENSP00000387143.3:p.Leu389Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.59C>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr540Ile
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-113321954-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321954
    reference: chr 2
allele count: 4
allele frequency: 3.296087544085171e-5
allele num: 121356
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1456A>T
  hgvsp: ENSP00000405358.2:p.Ile486Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1624A>T
  hgvsp: ENSP00000263331.5:p.Ile542Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1738A>T
  hgvsp: ENSP00000444136.1:p.Ile580Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.16A>T
  hgvsp: ENSP00000394408.2:p.Ile6Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.991A>T
  hgvsp: ENSP00000437914.1:p.Ile331Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1494A>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.189A>T
  hgvsp: ENST00000448770.1:c.189A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.64A>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1170A>T
  hgvsp: ENST00000409894.3:c.1170A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile542Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-113321958-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321958
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.995A>G
  hgvsp: ENSP00000437914.1:p.Asp332Gly
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1628A>G
  hgvsp: ENSP00000263331.5:p.Asp543Gly
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1174A>G
  hgvsp: ENSP00000387143.3:p.Met392Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1498A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1742A>G
  hgvsp: ENSP00000444136.1:p.Asp581Gly
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.193A>G
  hgvsp: ENSP00000390274.1:p.Met65Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1460A>G
  hgvsp: ENSP00000405358.2:p.Asp487Gly
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.20A>G
  hgvsp: ENSP00000394408.2:p.Asp7Gly
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.68A>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp543Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-113321958-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321958
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.995A>T
  hgvsp: ENSP00000437914.1:p.Asp332Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1742A>T
  hgvsp: ENSP00000444136.1:p.Asp581Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1498A>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.20A>T
  hgvsp: ENSP00000394408.2:p.Asp7Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1174A>T
  hgvsp: ENSP00000387143.3:p.Met392Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1460A>T
  hgvsp: ENSP00000405358.2:p.Asp487Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1628A>T
  hgvsp: ENSP00000263331.5:p.Asp543Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.68A>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.193A>T
  hgvsp: ENSP00000390274.1:p.Met65Leu
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp543Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-113321961-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321961
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321961
    reference: chr 2
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1501G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.23G>A
  hgvsp: ENSP00000394408.2:p.Gly8Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.71G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1177G>A
  hgvsp: ENSP00000387143.3:p.Glu393Lys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1463G>A
  hgvsp: ENSP00000405358.2:p.Gly488Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.998G>A
  hgvsp: ENSP00000437914.1:p.Gly333Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.196G>A
  hgvsp: ENSP00000390274.1:p.Glu66Lys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1631G>A
  hgvsp: ENSP00000263331.5:p.Gly544Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1745G>A
  hgvsp: ENSP00000444136.1:p.Gly582Glu
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly544Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-113321966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321966
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321966
    reference: chr 2
allele count: 45
allele frequency: 3.707609662854695e-4
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1003C>T
  hgvsp: ENSP00000437914.1:p.Pro335Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.28C>T
  hgvsp: ENSP00000394408.2:p.Pro10Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.76C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1750C>T
  hgvsp: ENSP00000444136.1:p.Pro584Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1468C>T
  hgvsp: ENSP00000405358.2:p.Pro490Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1636C>T
  hgvsp: ENSP00000263331.5:p.Pro546Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1506C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1182C>T
  hgvsp: ENST00000409894.3:c.1182C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.201C>T
  hgvsp: ENST00000448770.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 9.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro546Ser
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-113321971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321971
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321971
    reference: chr 2
allele count: 9
allele frequency: 7.41485277397881e-5
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.81C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1755C>T
  hgvsp: ENST00000541869.1:c.1755C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1187C>T
  hgvsp: ENSP00000387143.3:p.Thr396Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.206C>T
  hgvsp: ENSP00000390274.1:p.Thr69Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.33C>T
  hgvsp: ENST00000458012.2:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1641C>T
  hgvsp: ENST00000263331.5:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1473C>T
  hgvsp: ENST00000417433.2:c.1473C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1511C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1008C>T
  hgvsp: ENST00000537335.1:c.1008C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5739
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr69Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-113321980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321980
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1017C>T
  hgvsp: ENST00000537335.1:c.1017C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.215C>T
  hgvsp: ENSP00000390274.1:p.Thr72Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.90C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1650C>T
  hgvsp: ENST00000263331.5:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1520C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1196C>T
  hgvsp: ENSP00000387143.3:p.Thr399Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1764C>T
  hgvsp: ENST00000541869.1:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1482C>T
  hgvsp: ENST00000417433.2:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.42C>T
  hgvsp: ENST00000458012.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr72Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-113321982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321982
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321982
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1652G>A
  hgvsp: ENSP00000263331.5:p.Ser551Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.92G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1766G>A
  hgvsp: ENSP00000444136.1:p.Ser589Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+1G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.44G>A
  hgvsp: ENSP00000394408.2:p.Ser15Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1522G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.217G>A
  hgvsp: ENSP00000390274.1:p.Val73Met
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1019G>A
  hgvsp: ENSP00000437914.1:p.Ser340Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1484G>A
  hgvsp: ENSP00000405358.2:p.Ser495Asn
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1197+1G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-113321982-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321982
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321982
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.217G>C
  hgvsp: ENSP00000390274.1:p.Val73Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1766G>C
  hgvsp: ENSP00000444136.1:p.Ser589Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1522G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1484G>C
  hgvsp: ENSP00000405358.2:p.Ser495Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1652G>C
  hgvsp: ENSP00000263331.5:p.Ser551Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.92G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1019G>C
  hgvsp: ENSP00000437914.1:p.Ser340Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+1G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.44G>C
  hgvsp: ENSP00000394408.2:p.Ser15Thr
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6460
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5741
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1197+1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

2-113321992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321992
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321992
    reference: chr 2
allele count: 27
allele frequency: 2.223942803485825e-4
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.102C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1532C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+11C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.54C>T
  hgvsp: ENST00000458012.2:c.54C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1494C>T
  hgvsp: ENST00000417433.2:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.227C>T
  hgvsp: ENSP00000390274.1:p.Thr76Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1662C>T
  hgvsp: ENST00000263331.5:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1776C>T
  hgvsp: ENST00000541869.1:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1029C>T
  hgvsp: ENST00000537335.1:c.1029C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46703
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr76Ile
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-113321997-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321997
    reference: chr 2
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1667T>C
  hgvsp: ENSP00000263331.5:p.Val556Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.59T>C
  hgvsp: ENSP00000394408.2:p.Val20Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+16T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1034T>C
  hgvsp: ENSP00000437914.1:p.Val345Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.107T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1781T>C
  hgvsp: ENSP00000444136.1:p.Val594Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.232T>C
  hgvsp: ENSP00000390274.1:p.Ser78Pro
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1499T>C
  hgvsp: ENSP00000405358.2:p.Val500Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1537T>C
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6459
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5744
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val556Ala
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

2-113321999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113321999
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113321999
    reference: chr 2
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1501C>T
  hgvsp: ENST00000417433.2:c.1501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+18C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1783C>T
  hgvsp: ENST00000541869.1:c.1783C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1669C>T
  hgvsp: ENST00000263331.5:c.1669C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1539C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.109C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1036C>T
  hgvsp: ENST00000537335.1:c.1036C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.234C>T
  hgvsp: ENST00000448770.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.61C>T
  hgvsp: ENST00000458012.2:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2542
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu557Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

2-113322004-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322004
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322004
    reference: chr 2
allele count: 4
allele frequency: 3.294621530351701e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1041G>A
  hgvsp: ENST00000537335.1:c.1041G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1674G>A
  hgvsp: ENST00000263331.5:c.1674G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.66G>A
  hgvsp: ENST00000458012.2:c.66G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.239G>A
  hgvsp: ENSP00000390274.1:p.Trp80Ter
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1788G>A
  hgvsp: ENST00000541869.1:c.1788G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1544G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+23G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1506G>A
  hgvsp: ENST00000417433.2:c.1506G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.114G>A
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2541
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5747
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Trp80Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-113322007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322007
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322007
    reference: chr 2
allele count: 10
allele frequency: 8.236689509752241e-5
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1677C>T
  hgvsp: ENST00000263331.5:c.1677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1044C>T
  hgvsp: ENST00000537335.1:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1791C>T
  hgvsp: ENST00000541869.1:c.1791C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+26C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.117C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.242C>T
  hgvsp: ENSP00000390274.1:p.Thr81Met
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1509C>T
  hgvsp: ENST00000417433.2:c.1509C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1547C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.69C>T
  hgvsp: ENST00000458012.2:c.69C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5059
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr81Met
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-113322014-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322014
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322014
    reference: chr 2
allele count: 313
allele frequency: 2.578041347500206e-3
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.76A>G
  hgvsp: ENSP00000394408.2:p.Met26Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+33A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1684A>G
  hgvsp: ENSP00000263331.5:p.Met562Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1516A>G
  hgvsp: ENSP00000405358.2:p.Met506Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1051A>G
  hgvsp: ENSP00000437914.1:p.Met351Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.124A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1554A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.249A>G
  hgvsp: ENST00000448770.1:c.249A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1798A>G
  hgvsp: ENSP00000444136.1:p.Met600Val
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5912
  bin: 9.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met562Val
num of homozygotes: 6
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-113322019-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322019
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322019
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1559T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.254T>G
  hgvsp: ENSP00000390274.1:p.Leu85Trp
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.81T>G
  hgvsp: ENST00000458012.2:c.81T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.129T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+38T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1521T>G
  hgvsp: ENST00000417433.2:c.1521T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1056T>G
  hgvsp: ENST00000537335.1:c.1056T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1803T>G
  hgvsp: ENST00000541869.1:c.1803T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1689T>G
  hgvsp: ENST00000263331.5:c.1689T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu85Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-113322023-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322023
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.133T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1807T>C
  hgvsp: ENSP00000444136.1:p.Trp603Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1525T>C
  hgvsp: ENSP00000405358.2:p.Trp509Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.258T>C
  hgvsp: ENST00000448770.1:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1060T>C
  hgvsp: ENSP00000437914.1:p.Trp354Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+42T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1693T>C
  hgvsp: ENSP00000263331.5:p.Trp565Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1563T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.85T>C
  hgvsp: ENSP00000394408.2:p.Trp29Arg
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Trp565Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-113322026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322026
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322026
    reference: chr 2
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.261G>A
  hgvsp: ENST00000448770.1:c.261G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1566G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.136G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1063G>A
  hgvsp: ENSP00000437914.1:p.Val355Met
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1696G>A
  hgvsp: ENSP00000263331.5:p.Val566Met
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1810G>A
  hgvsp: ENSP00000444136.1:p.Val604Met
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.88G>A
  hgvsp: ENSP00000394408.2:p.Val30Met
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1528G>A
  hgvsp: ENSP00000405358.2:p.Val510Met
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+45G>A
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46715
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val566Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-113322032-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322032
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322032
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1069A>G
  hgvsp: ENSP00000437914.1:p.Lys357Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1534A>G
  hgvsp: ENSP00000405358.2:p.Lys512Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.267A>G
  hgvsp: ENSP00000390274.1:p.Ile89Met
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.142A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1816A>G
  hgvsp: ENSP00000444136.1:p.Lys606Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1572A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.94A>G
  hgvsp: ENSP00000394408.2:p.Lys32Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1702A>G
  hgvsp: ENSP00000263331.5:p.Lys568Glu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+51A>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys568Glu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-113322036-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322036
    reference: chr 2
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.98A>C
  hgvsp: ENSP00000394408.2:p.Asp33Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1820A>C
  hgvsp: ENSP00000444136.1:p.Asp607Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1576A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+55A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1073A>C
  hgvsp: ENSP00000437914.1:p.Asp358Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1538A>C
  hgvsp: ENSP00000405358.2:p.Asp513Ala
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.271A>C
  hgvsp: ENSP00000390274.1:p.Ile91Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.146A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1706A>C
  hgvsp: ENSP00000263331.5:p.Asp569Ala
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3677
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp569Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

2-113322045-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322045
    reference: chr 2
allele count: 11
allele frequency: 9.060806247014052e-5
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1082C>T
  hgvsp: ENSP00000437914.1:p.Pro361Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1547C>T
  hgvsp: ENSP00000405358.2:p.Pro516Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.280C>T
  hgvsp: ENSP00000390274.1:p.Gln94Ter
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1585C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1715C>T
  hgvsp: ENSP00000263331.5:p.Pro572Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.107C>T
  hgvsp: ENSP00000394408.2:p.Pro36Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+64C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.155C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1829C>T
  hgvsp: ENSP00000444136.1:p.Pro610Leu
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5053
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln94Ter
num of homozygotes: 1
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-113322050-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322050
    reference: chr 2
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1087A>G
  hgvsp: ENSP00000437914.1:p.Ile363Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1552A>G
  hgvsp: ENSP00000405358.2:p.Ile518Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+69A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.160A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.285A>G
  hgvsp: ENST00000448770.1:c.285A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1834A>G
  hgvsp: ENSP00000444136.1:p.Ile612Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1590A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1720A>G
  hgvsp: ENSP00000263331.5:p.Ile574Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.112A>G
  hgvsp: ENSP00000394408.2:p.Ile38Val
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7354
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile574Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-113322052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322052
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322052
    reference: chr 2
allele count: 21
allele frequency: 1.7298757784441e-4
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.287C>T
  hgvsp: ENSP00000390274.1:p.Ser96Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.114C>T
  hgvsp: ENST00000458012.2:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.162C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1592C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1836C>T
  hgvsp: ENST00000541869.1:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1554C>T
  hgvsp: ENST00000417433.2:c.1554C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1722C>T
  hgvsp: ENST00000263331.5:c.1722C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1089C>T
  hgvsp: ENST00000537335.1:c.1089C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+71C>T
  variant of: http://identifiers.org/hgnc/20454
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5050
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser96Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-113322053-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322053
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322053
    reference: chr 2
allele count: 2
allele frequency: 1.647473599235572e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1723G>A
  hgvsp: ENSP00000263331.5:p.Ala575Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+72G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1837G>A
  hgvsp: ENSP00000444136.1:p.Ala613Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1090G>A
  hgvsp: ENSP00000437914.1:p.Ala364Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.115G>A
  hgvsp: ENSP00000394408.2:p.Ala39Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.163G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1555G>A
  hgvsp: ENSP00000405358.2:p.Ala519Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1593G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.288G>A
  hgvsp: ENST00000448770.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5851
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala575Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-113322060-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322060
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1730C>G
  hgvsp: ENSP00000263331.5:p.Ser577Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.122C>G
  hgvsp: ENSP00000394408.2:p.Ser41Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1600C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1097C>G
  hgvsp: ENSP00000437914.1:p.Ser366Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.170C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.295C>G
  hgvsp: ENSP00000390274.1:p.Leu99Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+79C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1562C>G
  hgvsp: ENSP00000405358.2:p.Ser521Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1844C>G
  hgvsp: ENSP00000444136.1:p.Ser615Cys
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5670
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46719
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5289
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser577Cys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-113322062-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322062
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322062
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.124C>T
  hgvsp: ENSP00000394408.2:p.Leu42Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1846C>T
  hgvsp: ENSP00000444136.1:p.Leu616Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1099C>T
  hgvsp: ENSP00000437914.1:p.Leu367Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1602C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.297C>T
  hgvsp: ENST00000448770.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1732C>T
  hgvsp: ENSP00000263331.5:p.Leu578Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1564C>T
  hgvsp: ENSP00000405358.2:p.Leu522Phe
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.172C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+81C>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu578Phe
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-113322062-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322062
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322061
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1101delT
  hgvsp: ENSP00000437914.1:p.Arg368ValfsTer6
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+83delT
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1604delT
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.126delT
  hgvsp: ENSP00000394408.2:p.Arg43ValfsTer6
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1734delT
  hgvsp: ENSP00000263331.5:p.Arg579ValfsTer6
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.299delT
  hgvsp: ENSP00000390274.1:p.Phe100SerfsTer4
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1848delT
  hgvsp: ENSP00000444136.1:p.Arg617ValfsTer6
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1566delT
  hgvsp: ENSP00000405358.2:p.Arg523ValfsTer6
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.174delT
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg579ValfsTer6
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: CT
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-113322065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322065
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322065
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1567C>T
  hgvsp: ENSP00000405358.2:p.Arg523Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1102C>T
  hgvsp: ENSP00000437914.1:p.Arg368Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1605C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.127C>T
  hgvsp: ENSP00000394408.2:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1735C>T
  hgvsp: ENSP00000263331.5:p.Arg579Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1849C>T
  hgvsp: ENSP00000444136.1:p.Arg617Cys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+84C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.300C>T
  hgvsp: ENST00000448770.1:c.300C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.175C>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg579Cys
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

2-113322066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322066
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322066
    reference: chr 2
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.176G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1606G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1103G>A
  hgvsp: ENSP00000437914.1:p.Arg368His
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.128G>A
  hgvsp: ENSP00000394408.2:p.Arg43His
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1568G>A
  hgvsp: ENSP00000405358.2:p.Arg523His
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1736G>A
  hgvsp: ENSP00000263331.5:p.Arg579His
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.301G>A
  hgvsp: ENSP00000390274.1:p.Val101Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+85G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1850G>A
  hgvsp: ENSP00000444136.1:p.Arg617His
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg579His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-113322069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322069
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322069
    reference: chr 2
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1853A>G
  hgvsp: ENSP00000444136.1:p.His618Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.179A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1739A>G
  hgvsp: ENSP00000263331.5:p.His580Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1609A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1571A>G
  hgvsp: ENSP00000405358.2:p.His524Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.304A>G
  hgvsp: ENSP00000390274.1:p.Ile102Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+88A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1106A>G
  hgvsp: ENSP00000437914.1:p.His369Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.131A>G
  hgvsp: ENSP00000394408.2:p.His44Arg
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46719
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His580Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-113322072-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322072
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322072
    reference: chr 2
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1856T>C
  hgvsp: ENSP00000444136.1:p.Phe619Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1742T>C
  hgvsp: ENSP00000263331.5:p.Phe581Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1574T>C
  hgvsp: ENSP00000405358.2:p.Phe525Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1612T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.182T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1109T>C
  hgvsp: ENSP00000437914.1:p.Phe370Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+91T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.307T>C
  hgvsp: ENST00000448770.1:c.307T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.134T>C
  hgvsp: ENSP00000394408.2:p.Phe45Ser
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe581Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

2-113322081-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322081
    reference: chr 2
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1113+5G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+100G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1616+5G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.311+5G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1860+5G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.186+5G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1746+5G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1578+5G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.138+5G>C
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46719
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1746+5G>C
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-113322081-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322081
    reference: chr 2
allele count: 3
allele frequency: 2.472147142197904e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.186+5G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.311+5G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+100G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1860+5G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1746+5G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.138+5G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1578+5G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1113+5G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1616+5G>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5669
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 46719
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1746+5G>T
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-113322118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322118
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322118
    reference: chr 2
allele count: 1
allele frequency: 8.251505899826718e-6
allele num: 121190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1578+42A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+137A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.311+42A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1860+42A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.138+42A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.186+42A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1616+42A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1746+42A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1113+42A>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-113322122-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322122
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322122
    reference: chr 2
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.311+46T>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1113+46T>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.138+46T>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+141T>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1746+46T>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.186+46T>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1578+46T>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1860+46T>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1616+46T>A
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5663
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

2-113322123-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113322123
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113322123
    reference: chr 2
allele count: 4
allele frequency: 3.303164431525401e-5
allele num: 121096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.311+47T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1746+47T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.186+47T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1616+47T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1113+47T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.138+47T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1578+47T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1860+47T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1197+142T>C
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7349
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6443
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5048
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-113325498-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325498
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325498
    reference: chr 2
allele count: 202
allele frequency: 1.732448240964682e-3
allele num: 116598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1114-46A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1747-46A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1861-46A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1579-46A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.187-46A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1617-46A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1198-46A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.139-46A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.312-46A>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2501
  bin: 4.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13000
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 3.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13627
  bin: 2.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5539
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 5
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

2-113325501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325501
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325501
    reference: chr 2
allele count: 1
allele frequency: 8.573094201159083e-6
allele num: 116644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1861-43G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1617-43G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.139-43G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1114-43G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1579-43G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1198-43G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.312-43G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.187-43G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1747-43G>A
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14674
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2307
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum

2-113325512-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325512
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325512
    reference: chr 2
allele count: 1
allele frequency: 8.517742457539054e-6
allele num: 117402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1861-32G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.139-32G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1579-32G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1198-32G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.187-32G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1617-32G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1747-32G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1114-32G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.312-32G>C
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-113325519-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325519
    reference: chr 2
allele count: 2
allele frequency: 1.692734782314307e-5
allele num: 118152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1114-25T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1579-25T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.187-25T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.312-25T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.139-25T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1617-25T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1861-25T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1747-25T>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1198-25T>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-113325525-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325525
    reference: chr 2
allele count: 1
allele frequency: 8.401384548173538e-6
allele num: 119028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1617-19C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1747-19C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1198-19C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1579-19C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1861-19C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.312-19C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1114-19C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.139-19C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.187-19C>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-113325533-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325533
    reference: chr 2
allele count: 3
allele frequency: 2.501834678764427e-5
allele num: 119912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.312-11G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1747-11G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1579-11G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.139-11G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1617-11G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1114-11G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1198-11G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1861-11G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.187-11G>A
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10593
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum

2-113325541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325541
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325541
    reference: chr 2
allele count: 1
allele frequency: 8.288849839196314e-6
allele num: 120644
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1579-3C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1861-3C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.139-3C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.187-3C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1198-3C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.312-3C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1114-3C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1747-3C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1617-3C>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1747-3C>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

2-113325552-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325552
    reference: chr 2
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1625A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*2A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.195A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1122A>G
  hgvsp: ENST00000537335.1:c.1122A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1206A>G
  hgvsp: ENST00000409894.3:c.1206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.147A>G
  hgvsp: ENST00000458012.2:c.147A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1869A>G
  hgvsp: ENST00000541869.1:c.1869A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1587A>G
  hgvsp: ENST00000417433.2:c.1587A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1755A>G
  hgvsp: ENST00000263331.5:c.1755A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg585Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

2-113325557-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325557
    reference: chr 2
allele count: 1
allele frequency: 8.250552787036732e-6
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1874A>G
  hgvsp: ENSP00000444136.1:p.Lys625Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*7A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1630A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1760A>G
  hgvsp: ENSP00000263331.5:p.Lys587Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1592A>G
  hgvsp: ENSP00000405358.2:p.Lys531Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1211A>G
  hgvsp: ENSP00000387143.3:p.Lys404Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1127A>G
  hgvsp: ENSP00000437914.1:p.Lys376Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.152A>G
  hgvsp: ENSP00000394408.2:p.Lys51Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.200A>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys587Arg
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-113325574-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325574
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325574
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1777A>C
  hgvsp: ENSP00000263331.5:p.Met593Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.217A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1144A>C
  hgvsp: ENSP00000437914.1:p.Met382Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1228A>C
  hgvsp: ENSP00000387143.3:p.Met410Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1647A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*24A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1891A>C
  hgvsp: ENSP00000444136.1:p.Met631Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1609A>C
  hgvsp: ENSP00000405358.2:p.Met537Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.169A>C
  hgvsp: ENSP00000394408.2:p.Met57Leu
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23311
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met593Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-113325574-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325574
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325574
    reference: chr 2
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1777A>G
  hgvsp: ENSP00000263331.5:p.Met593Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1228A>G
  hgvsp: ENSP00000387143.3:p.Met410Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.169A>G
  hgvsp: ENSP00000394408.2:p.Met57Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1891A>G
  hgvsp: ENSP00000444136.1:p.Met631Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1647A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1144A>G
  hgvsp: ENSP00000437914.1:p.Met382Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1609A>G
  hgvsp: ENSP00000405358.2:p.Met537Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.217A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met593Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-113325575-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325575
    reference: chr 2
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1778T>C
  hgvsp: ENSP00000263331.5:p.Met593Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1892T>C
  hgvsp: ENSP00000444136.1:p.Met631Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.170T>C
  hgvsp: ENSP00000394408.2:p.Met57Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1229T>C
  hgvsp: ENSP00000387143.3:p.Met410Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1610T>C
  hgvsp: ENSP00000405358.2:p.Met537Thr
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.218T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1648T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1145T>C
  hgvsp: ENSP00000437914.1:p.Met382Thr
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met593Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-113325576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325576
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325576
    reference: chr 2
allele count: 4
allele frequency: 3.296250515039143e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1146G>A
  hgvsp: ENSP00000437914.1:p.Met382Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.171G>A
  hgvsp: ENSP00000394408.2:p.Met57Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1611G>A
  hgvsp: ENSP00000405358.2:p.Met537Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.219G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1649G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1230G>A
  hgvsp: ENSP00000387143.3:p.Met410Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*26G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1779G>A
  hgvsp: ENSP00000263331.5:p.Met593Ile
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1893G>A
  hgvsp: ENSP00000444136.1:p.Met631Ile
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met593Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-113325606-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325606
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325606
    reference: chr 2
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1260A>T
  hgvsp: ENSP00000387143.3:p.Lys420Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1176A>T
  hgvsp: ENSP00000437914.1:p.Lys392Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1809A>T
  hgvsp: ENSP00000263331.5:p.Lys603Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.249A>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.201A>T
  hgvsp: ENSP00000394408.2:p.Lys67Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1923A>T
  hgvsp: ENSP00000444136.1:p.Lys641Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1679A>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1641A>T
  hgvsp: ENSP00000405358.2:p.Lys547Asn
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*56A>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3922
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys603Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-113325613-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325613
    reference: chr 2
allele count: 2
allele frequency: 1.647500741375333e-5
allele num: 121396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.256C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1930C>G
  hgvsp: ENSP00000444136.1:p.Leu644Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1183C>G
  hgvsp: ENSP00000437914.1:p.Leu395Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1686C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1267C>G
  hgvsp: ENSP00000387143.3:p.Leu423Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*63C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.208C>G
  hgvsp: ENSP00000394408.2:p.Leu70Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1648C>G
  hgvsp: ENSP00000405358.2:p.Leu550Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1816C>G
  hgvsp: ENSP00000263331.5:p.Leu606Val
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu606Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-113325626-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325626
    reference: chr 2
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.221T>C
  hgvsp: ENSP00000394408.2:p.Leu74Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1196T>C
  hgvsp: ENSP00000437914.1:p.Leu399Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1661T>C
  hgvsp: ENSP00000405358.2:p.Leu554Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*76T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1943T>C
  hgvsp: ENSP00000444136.1:p.Leu648Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.269T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1280T>C
  hgvsp: ENSP00000387143.3:p.Leu427Ser
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1699T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1829T>C
  hgvsp: ENSP00000263331.5:p.Leu610Ser
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu610Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-113325644-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325644
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325644
    reference: chr 2
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*94C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.239C>T
  hgvsp: ENSP00000394408.2:p.Pro80Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1847C>T
  hgvsp: ENSP00000263331.5:p.Pro616Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1214C>T
  hgvsp: ENSP00000437914.1:p.Pro405Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1961C>T
  hgvsp: ENSP00000444136.1:p.Pro654Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1717C>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1679C>T
  hgvsp: ENSP00000405358.2:p.Pro560Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1298C>T
  hgvsp: ENSP00000387143.3:p.Pro433Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.287C>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5576
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro616Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-113325655-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325655
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325655
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1858G>C
  hgvsp: ENSP00000263331.5:p.Val620Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.298G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.250G>C
  hgvsp: ENSP00000394408.2:p.Val84Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1309G>C
  hgvsp: ENSP00000387143.3:p.Val437Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1728G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*105G>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1972G>C
  hgvsp: ENSP00000444136.1:p.Val658Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1690G>C
  hgvsp: ENSP00000405358.2:p.Val564Leu
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1225G>C
  hgvsp: ENSP00000437914.1:p.Val409Leu
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21845
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val620Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

2-113325662-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325662
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325662
    reference: chr 2
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.305C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1697C>G
  hgvsp: ENSP00000405358.2:p.Pro566Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1735C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1865C>G
  hgvsp: ENSP00000263331.5:p.Pro622Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*112C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1232C>G
  hgvsp: ENSP00000437914.1:p.Pro411Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1316C>G
  hgvsp: ENSP00000387143.3:p.Pro439Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1979C>G
  hgvsp: ENSP00000444136.1:p.Pro660Arg
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.257C>G
  hgvsp: ENSP00000394408.2:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2561
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21837
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro622Arg
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-113325679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325679
    reference: chr 2
allele count: 1203
allele frequency: 9.910696632175576e-3
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.1996T>C
  hgvsp: ENST00000541869.1:c.1996T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1882T>C
  hgvsp: ENST00000263331.5:c.1882T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1714T>C
  hgvsp: ENST00000417433.2:c.1714T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1249T>C
  hgvsp: ENST00000537335.1:c.1249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.322T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1752T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1333T>C
  hgvsp: ENST00000409894.3:c.1333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*129T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.274T>C
  hgvsp: ENST00000458012.2:c.274T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 21428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15673
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 9.75e1
  variant carriers: 787
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5275
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 8.25e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu628Leu
num of homozygotes: 17
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

2-113325687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325687
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.282A>G
  hgvsp: ENST00000458012.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1341A>G
  hgvsp: ENST00000409894.3:c.1341A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1722A>G
  hgvsp: ENST00000417433.2:c.1722A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2004A>G
  hgvsp: ENST00000541869.1:c.2004A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1760A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1257A>G
  hgvsp: ENST00000537335.1:c.1257A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.330A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*137A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1890A>G
  hgvsp: ENST00000263331.5:c.1890A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15769
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5503
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys630Lys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

2-113325688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325688
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325688
    reference: chr 2
allele count: 7
allele frequency: 5.767772980455489e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*138G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1258G>A
  hgvsp: ENSP00000437914.1:p.Glu420Lys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.331G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1342G>A
  hgvsp: ENSP00000387143.3:p.Glu448Lys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1723G>A
  hgvsp: ENSP00000405358.2:p.Glu575Lys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1761G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.283G>A
  hgvsp: ENSP00000394408.2:p.Glu95Lys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1891G>A
  hgvsp: ENSP00000263331.5:p.Glu631Lys
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2005G>A
  hgvsp: ENSP00000444136.1:p.Glu669Lys
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21423
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu631Lys
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

2-113325694-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325694
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2011C>G
  hgvsp: ENSP00000444136.1:p.Leu671Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1767C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1264C>G
  hgvsp: ENSP00000437914.1:p.Leu422Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1897C>G
  hgvsp: ENSP00000263331.5:p.Leu633Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.289C>G
  hgvsp: ENSP00000394408.2:p.Leu97Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1729C>G
  hgvsp: ENSP00000405358.2:p.Leu577Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1348C>G
  hgvsp: ENSP00000387143.3:p.Leu450Val
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.337C>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*144C>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7802
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu633Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/2-113325719-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325719
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325719
    reference: chr 2
allele count: 27
allele frequency: 2.229967458993376e-4
allele num: 121078
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2031+5A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1368+5A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1787+5A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1749+5A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*164+5A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.357+5A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1917+5A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.309+5A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1284+5A>C
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15680
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20816
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1917+5A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-113325723-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325723
    reference: chr 2
allele count: 25
allele frequency: 2.066423104263444e-4
allele num: 120982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1284+9A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1917+9A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.309+9A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*164+9A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.357+9A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2031+9A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1368+9A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1787+9A>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1749+9A>C
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20486
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15660
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ

2-113325723-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325723
    reference: chr 2
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2031+9A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.357+9A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.309+9A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1368+9A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1787+9A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1917+9A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*164+9A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1749+9A>G
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1284+9A>G
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

2-113325724-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325724
    reference: chr 2
allele count: 1
allele frequency: 8.266239026567692e-6
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1284+10T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2031+10T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1917+10T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.309+10T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1749+10T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1787+10T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*164+10T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1368+10T>C
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.357+10T>C
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5485
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10425
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-113325727-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325727
    reference: chr 2
allele count: 89
allele frequency: 7.361821099475574e-4
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.309+13G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1284+13G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2031+13G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.357+13G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1917+13G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*164+13G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1368+13G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1787+13G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1749+13G>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5392
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20286
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2677
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21669
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-113325742-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325742
    reference: chr 2
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1917+28G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2031+28G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.357+28G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1368+28G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.309+28G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1749+28G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1787+28G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1284+28G>A
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*164+28G>A
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4745
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10446
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-113325742-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 113325742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 113325742
    reference: chr 2
allele count: 2
allele frequency: 1.657852417977751e-5
allele num: 120638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000387143
  ensembl transcript: ENST00000409894
  gene symbol: POLR1B
  hgvsc: ENST00000409894.3:c.1368+28G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000444136
  ensembl transcript: ENST00000541869
  gene symbol: POLR1B
  hgvsc: ENST00000541869.1:c.2031+28G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000263331
  ensembl transcript: ENST00000263331
  gene symbol: POLR1B
  hgvsc: ENST00000263331.5:c.1917+28G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000334589
  ensembl transcript: ENST00000333990
  gene symbol: POLR1B
  hgvsc: ENST00000333990.6:c.*1787+28G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000405358
  ensembl transcript: ENST00000417433
  gene symbol: POLR1B
  hgvsc: ENST00000417433.2:c.1749+28G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000390274
  ensembl transcript: ENST00000448770
  gene symbol: POLR1B
  hgvsc: ENST00000448770.1:c.*164+28G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl transcript: ENST00000484574
  gene symbol: POLR1B
  hgvsc: ENST00000484574.1:n.357+28G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000394408
  ensembl transcript: ENST00000458012
  gene symbol: POLR1B
  hgvsc: ENST00000458012.2:c.309+28G>T
  variant of: http://identifiers.org/hgnc/20454
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000125630
  ensembl protein: ENSP00000437914
  ensembl transcript: ENST00000537335
  gene symbol: POLR1B
  hgvsc: ENST00000537335.1:c.1284+28G>T
  variant of: http://identifiers.org/hgnc/20454
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18648
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

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

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

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

GenotypeQuality
all individuals: 1531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1934
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46742
bin: 9.75e1
variant carriers: 1088

GenotypeQuality
all individuals: 1349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5151
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

Latino
type: Population
allele count: 49
allele frequency: 4.232895646164478e-3
allele num: 11576
num of homozygotes: 0

African
type: Population
allele count: 1105
allele frequency: 1.061887372669614e-1
allele num: 10406
num of homozygotes: 76

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.003061040753856e-5
allele num: 66644
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.420573e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.97e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.537e1

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

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1249
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5186
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46697
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1614
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1355
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 3.404737e6

QD
type: SiteQuality
SIO_000300: 1.353e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.19e-1

FS
type: SiteQuality
SIO_000300: 1.5297e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.364e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeQuality
all individuals: 46697
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1349
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5180
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 950
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.31e-1

DP
type: SiteQuality
SIO_000300: 3.40512e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.288e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.021e0

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

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

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

GenotypeQuality
all individuals: 1247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1614
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46699
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1947
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.531e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.97e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.42e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 3.405371e6

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 953
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.25e1
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

QD
type: SiteQuality
SIO_000300: 1.397e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.611e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 3.405954e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

FS
type: SiteQuality
SIO_000300: 9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.406246e6

QD
type: SiteQuality
SIO_000300: 1.421e1

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 2
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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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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1611
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.406246e6

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

FS
type: SiteQuality
SIO_000300: 9.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 28
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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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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: 1247
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

FS
type: SiteQuality
SIO_000300: 2.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e0

DP
type: SiteQuality
SIO_000300: 3.406437e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.944e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

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

GenotypeQuality
all individuals: 5284
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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bin: 9.75e1
variant carriers: 45

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1947
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 43
allele frequency: 4.132231404958678e-3
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 3.459e0

DP
type: SiteQuality
SIO_000300: 3.407441e6

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.047e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-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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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349203969657902e-4
allele num: 66706
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.372e1

FS
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

DP
type: SiteQuality
SIO_000300: 3.406481e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.774e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.778e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-1

FS
type: SiteQuality
SIO_000300: 1.1596e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

MQRankSum
type: SiteQuality
SIO_000300: -2.201e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.74e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

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

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 46701
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1344
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 952
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GenotypeQuality
all individuals: 5325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1563
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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South Asian
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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

African
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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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Other
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ReadPosRankSum
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FS
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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QD
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VQSLOD
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ClippingRankSum
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SIO_000300: 5.86e-1

BaseQRankSum
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SIO_000300: -1.921e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

African
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allele count: 27
allele frequency: 2.594656928694984e-3
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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InbreedingCoeff
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MQRankSum
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MQ
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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DP
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ClippingRankSum
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SIO_000300: 5.7e-2

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

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

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16512
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 8.0e-4

BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.962e1

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

European (Non-Finnish)
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allele frequency: 5.993586862057598e-5
allele num: 66738
num of homozygotes: 0

Latino
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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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African
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Other
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South Asian
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FS
type: SiteQuality
SIO_000300: 5.37e-1

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

East Asian
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num of homozygotes: 0

Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

African
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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: 5.993766482857828e-5
allele num: 66736
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South Asian
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allele num: 16512
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Other
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQRankSum
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.495190146543199e-5
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African
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East Asian
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Latino
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allele frequency: 7.77336327517706e-4
allele num: 11578
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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Other
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African
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European (Finnish)
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East Asian
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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MQ
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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Other
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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MQ
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FS
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SIO_000300: 6.02e-1

BaseQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Latino
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European (Non-Finnish)
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Other
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Finnish)
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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DP
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FS
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MQ
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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South Asian
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European (Finnish)
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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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FS
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InbreedingCoeff
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ReadPosRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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East Asian
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Other
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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QD
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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Other
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African
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MQ
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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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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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African
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Other
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InbreedingCoeff
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MQRankSum
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DP
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QD
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VQSLOD
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MQ
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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European (Finnish)
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Other
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BaseQRankSum
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DP
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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QD
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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 (Finnish)
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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FS
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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InbreedingCoeff
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African
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European (Non-Finnish)
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VQSLOD
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FS
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DP
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeQuality
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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MQ
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FS
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DP
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FS
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DP
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SIO_000300: 3.416428e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46718
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1942
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.399915e6

MQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

FS
type: SiteQuality
SIO_000300: 4.534e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
all individuals: 1596
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1941
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46718
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 269
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.167e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.223e1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

FS
type: SiteQuality
SIO_000300: 9.18e-1

DP
type: SiteQuality
SIO_000300: 3.398981e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 603
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 637
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1976
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46720
bin: 9.75e1
variant carriers: 4

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

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

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

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

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

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

African
type: Population
allele count: 4
allele frequency: 3.844675124951942e-4
allele num: 10404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 3.398851e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

GenotypeQuality
all individuals: 2239
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2376
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4245
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 12346
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5007
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9925
bin: 9.75e1
variant carriers: 192

GenotypeQuality
all individuals: 2377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6686
bin: 6.75e1
variant carriers: 2

Latino
type: Population
allele count: 25
allele frequency: 2.192982456140351e-3
allele num: 11400
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.036695927471579e-4
allele num: 13898
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.916193459956922e-4
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.915541369997545e-4
allele num: 65168
num of homozygotes: 0

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

East Asian
type: Population
allele count: 147
allele frequency: 1.729004940014114e-2
allele num: 8502
num of homozygotes: 5

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

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.242e0

QD
type: SiteQuality
SIO_000300: 1.273e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.11e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

DP
type: SiteQuality
SIO_000300: 1.688046e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

GenotypeQuality
all individuals: 191
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1244
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6807
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5032
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1782
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2036
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4315
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9804
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65170
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.174812030075188e-4
allele num: 8512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13934
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 9.869999999999999e0

DP
type: SiteQuality
SIO_000300: 1.698633e6

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.247e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.563e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.75e-1

GenotypeQuality
all individuals: 3748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2063
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7288
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4613
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9871
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527837193668643e-5
allele num: 65452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14274
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.533e1

DP
type: SiteQuality
SIO_000300: 1.750682e6

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.863e0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5451
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7540
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3831
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9902
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4710
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1707
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.747335313646689e-4
allele num: 11446
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

FS
type: SiteQuality
SIO_000300: 2.578e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 1.777029e6

VQSLOD
type: SiteQuality
SIO_000300: 5.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.681e1

GenotypeQuality
all individuals: 2998
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 21183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9917
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 240
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7628
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15118
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.571e1

DP
type: SiteQuality
SIO_000300: 1.795244e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

FS
type: SiteQuality
SIO_000300: 1.249e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.891e0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3891
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9928
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 114
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4774
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15648
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.887947631882942e-4
allele num: 10388
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

QD
type: SiteQuality
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DP
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InbreedingCoeff
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SIO_000300: 1.4e-3

BaseQRankSum
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SIO_000300: -3.44e0

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505298651252408e-5
allele num: 66432
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.49e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.034e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.825464e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.59e-1

BaseQRankSum
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SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.218e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.307e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

FS
type: SiteQuality
SIO_000300: 1.158e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

VQSLOD
type: SiteQuality
SIO_000300: 2.64e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.826515e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

FS
type: SiteQuality
SIO_000300: 5.98e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.828888e6

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

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

DP
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SIO_000300: 1.828888e6

QD
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-2

GenotypeQuality
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variant carriers: 0

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

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

Other
type: Population
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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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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: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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num of homozygotes: 0

Other
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 4.622140050843541e-4
allele num: 8654
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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num of homozygotes: 0

South Asian
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FS
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DP
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QD
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 1.829711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

QD
type: SiteQuality
SIO_000300: 9.93e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

FS
type: SiteQuality
SIO_000300: 6.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.766e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.771e0

MQ
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FS
type: SiteQuality
SIO_000300: 1.377e1

MQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

InbreedingCoeff
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SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 1.829789e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

QD
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SIO_000300: 1.468e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.204e0

DP
type: SiteQuality
SIO_000300: 1.829925e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQ
type: SiteQuality
SIO_000300: 5.904e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.93e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.57e0

QD
type: SiteQuality
SIO_000300: 1.422e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.596e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.38e1

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.28e-1

DP
type: SiteQuality
SIO_000300: 1.830229e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.742e1

DP
type: SiteQuality
SIO_000300: 1.830075e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 7.739e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 1.66e0

ClippingRankSum
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SIO_000300: -1.047e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.97e0

DP
type: SiteQuality
SIO_000300: 1.830171e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.8e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1186

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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 463
allele frequency: 6.938824446242844e-3
allele num: 66726
num of homozygotes: 1

Latino
type: Population
allele count: 101
allele frequency: 8.732491786270101e-3
allele num: 11566
num of homozygotes: 0

European (Finnish)
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allele count: 39
allele frequency: 5.898366606170599e-3
allele num: 6612
num of homozygotes: 0

African
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allele count: 574
allele frequency: 5.516048433596003e-2
allele num: 10406
num of homozygotes: 15

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

Other
type: Population
allele count: 14
allele frequency: 1.541850220264317e-2
allele num: 908
num of homozygotes: 1

South Asian
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allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.42e-2

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
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SIO_000300: 6.37e0

QD
type: SiteQuality
SIO_000300: 1.433e1

DP
type: SiteQuality
SIO_000300: 1.942648e6

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.578e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 1.799e0

DP
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049349403369911e-4
allele num: 66708
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.202e0

DP
type: SiteQuality
SIO_000300: 1.861314e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10413
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3878
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.97e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.309e1

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

FS
type: SiteQuality
SIO_000300: 3.468e0

DP
type: SiteQuality
SIO_000300: 1.860467e6

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4759
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 27

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5492
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3016
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 26
allele frequency: 1.594700686947988e-3
allele num: 16304
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.854446e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

VQSLOD
type: SiteQuality
SIO_000300: 4.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

GenotypeQuality
all individuals: 590
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10442
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 3014
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5483
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 25
allele frequency: 1.539219307966999e-3
allele num: 16242
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.851189e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

FS
type: SiteQuality
SIO_000300: 2.536e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 3870
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5483
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.536e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
SIO_000300: 1.851189e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

VQSLOD
type: SiteQuality
SIO_000300: 2.65e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

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

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4
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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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variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.15839389087326e-5
allele num: 16238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.674e0

MQRankSum
type: SiteQuality
SIO_000300: -1.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.42e0

QD
type: SiteQuality
SIO_000300: 1.74e1

VQSLOD
type: SiteQuality
SIO_000300: -6.614e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.850541e6

GenotypeQuality
all individuals: 3865
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
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variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
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GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 7
bin: 1.25e1
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GenotypeQuality
all individuals: 7699
bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5479
bin: 7.75e1
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GenotypeQuality
all individuals: 10482
bin: 9.75e1
variant carriers: 89

African
type: Population
allele count: 83
allele frequency: 7.982304289286401e-3
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16184
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.194805194805195e-4
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.3e1

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.77e0

FS
type: SiteQuality
SIO_000300: 6.96e-1

DP
type: SiteQuality
SIO_000300: 1.854263e6

GenotypeQuality
all individuals: 574
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 789
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GenotypeQuality
all individuals: 3853
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GenotypeQuality
all individuals: 137
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GenotypeQuality
all individuals: 501
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GenotypeQuality
all individuals: 2215
bin: 8.75e1
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GenotypeQuality
all individuals: 3012
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
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GenotypeQuality
all individuals: 19673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16012
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 1.833364e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.08e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 6.39e-1

FS
type: SiteQuality
SIO_000300: 5.188e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.227e0

QD
type: SiteQuality
SIO_000300: 1.418e1