19-1090976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090976
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090976
    reference: chr 19
allele count: 1
allele frequency: 8.363161944267889e-6
allele num: 119572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.162C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1600C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.360C>T
  hgvsp: ENST00000586746.1:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.360C>T
  hgvsp: ENST00000215587.7:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*126C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*29C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38304
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp120Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

19-1090978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090978
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090978
    reference: chr 19
allele count: 1
allele frequency: 8.362742310458446e-6
allele num: 119578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.160G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.358G>A
  hgvsp: ENSP00000464739.1:p.Asp120Asn
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.358G>A
  hgvsp: ENSP00000215587.6:p.Asp120Asn
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*27G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*124G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1598G>A
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38231
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp120Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

19-1090979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090979
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090979
    reference: chr 19
allele count: 31
allele frequency: 2.592536839112182e-4
allele num: 119574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.357C>T
  hgvsp: ENST00000586746.1:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*26C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.159C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1597C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.357C>T
  hgvsp: ENST00000215587.7:c.357C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*123C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val119Val
num of homozygotes: 1
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-1090979-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090979
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090979
    reference: chr 19
allele count: 1
allele frequency: 8.363022061652199e-6
allele num: 119574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1597C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.357C>G
  hgvsp: ENST00000586746.1:c.357C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*26C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.159C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.357C>G
  hgvsp: ENST00000215587.7:c.357C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*123C>G
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6524
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38268
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val119Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

19-1090980-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090980
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090980
    reference: chr 19
allele count: 1
allele frequency: 8.363581620193032e-6
allele num: 119566
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.356T>C
  hgvsp: ENSP00000215587.6:p.Val119Ala
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1596T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.356T>C
  hgvsp: ENSP00000464739.1:p.Val119Ala
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*122T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.158T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17812
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38246
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val119Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-1090985-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090985
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090985
    reference: chr 19
allele count: 4
allele frequency: 3.346608212576554e-5
allele num: 119524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1591C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.351C>T
  hgvsp: ENST00000215587.7:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*117C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.153C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.351C>T
  hgvsp: ENST00000586746.1:c.351C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38121
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
hgvs: c.351C>T
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

19-1090991-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090991
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090989
    reference: chr 19
allele count: 1
allele frequency: 8.376612497905846e-6
allele num: 119380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-6_*115-5delTT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-6_151-5delTT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-6_*18-5delTT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-6_349-5delTT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-6_349-5delTT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-6_1589-5delTT
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2372
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8595
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: c.349-6_349-5delTT
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: GAA
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1090997-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090997
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090997
    reference: chr 19
allele count: 1
allele frequency: 8.385603595746822e-6
allele num: 119252
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-10T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-10T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-10T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-10T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-10T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-10T>G
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/19-1090999-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090999
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090999
    reference: chr 19
allele count: 1
allele frequency: 8.38799510141086e-6
allele num: 119218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-12G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-12G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-12G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-12G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-12G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-12G>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-1090999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1090999
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1090999
    reference: chr 19
allele count: 649
allele frequency: 5.443808820815649e-3
allele num: 119218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-12G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-12G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-12G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-12G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-12G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-12G>A
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 17573
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 29821
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 3.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6553
  bin: 3.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 36871
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8451
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3048
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 14
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

19-1091000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091000
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091000
    reference: chr 19
allele count: 3
allele frequency: 2.516820752026041e-5
allele num: 119198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-13C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-13C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-13C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-13C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-13C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-13C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1367
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3094
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

19-1091001-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091001
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091001
    reference: chr 19
allele count: 173
allele frequency: 1.451707644541411e-3
allele num: 119170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-14C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-14C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-14C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-14C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-14C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-14C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17717
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 29601
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6638
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

19-1091006-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091006
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091006
    reference: chr 19
allele count: 1
allele frequency: 8.399549784131571e-6
allele num: 119054
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-19T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-19T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-19T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-19T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-19T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-19T>C
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17581
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.25e1
  variant carriers: 0
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: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

19-1091006-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091006
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091006
    reference: chr 19
allele count: 1
allele frequency: 8.399549784131571e-6
allele num: 119054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-19T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-19T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-19T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-19T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-19T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-19T>A
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1601
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-1091012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091012
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091012
    reference: chr 19
allele count: 4
allele frequency: 3.367570298029972e-5
allele num: 118780
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-25G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-25G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-25G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-25G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-25G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-25G>A
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3082
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-1091013-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091013
    reference: chr 19
allele count: 1
allele frequency: 8.43355204344966e-6
allele num: 118574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-26C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-26C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-26C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-26C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-26C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-26C>G
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

19-1091013-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091013
    reference: chr 19
allele count: 1
allele frequency: 8.43355204344966e-6
allele num: 118574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-26C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-26C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-26C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-26C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-26C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-26C>A
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

19-1091018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091018
    reference: chr 19
allele count: 3
allele frequency: 2.532414910858995e-5
allele num: 118464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-31C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-31C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-31C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-31C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-31C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-31C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32137
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

19-1091018-GGAGGGGCCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091008
    reference: chr 19
allele count: 11
allele frequency: 9.285521339816316e-5
allele num: 118464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16617
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2337
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: GGAGGGGCCCA
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

19-1091020-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091020
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091020
    reference: chr 19
allele count: 1
allele frequency: 8.447087444249223e-6
allele num: 118384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-33T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-33T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-33T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-33T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-33T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-33T>A
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16116
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

19-1091021-G-GGGGCCCAGAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091021
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091031
    reference: chr 19
allele count: 1
allele frequency: 8.446659346228567e-6
allele num: 118390
alternate allele: GGGGCCCAGAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2378
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30391
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7492
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

19-1091024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091024
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091024
    reference: chr 19
allele count: 1
allele frequency: 8.457517887650332e-6
allele num: 118238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-37C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-37C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-37C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-37C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-37C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-37C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7436
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

19-1091025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091025
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091025
    reference: chr 19
allele count: 4
allele frequency: 3.389658152975273e-5
allele num: 118006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-38G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-38G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-38G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-38G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-38G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-38G>A
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6207
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1091026-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091026
    reference: chr 19
allele count: 1
allele frequency: 8.472278704080249e-6
allele num: 118032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-39G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-39G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-39G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-39G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-39G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-39G>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

19-1091029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091029
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091029
    reference: chr 19
allele count: 1
allele frequency: 8.470699849221542e-6
allele num: 118054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-42C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-42C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-42C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-42C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-42C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-42C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3703
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3093
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26551
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-1091031-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091030
    reference: chr 19
allele count: 3
allele frequency: 2.549156229288106e-5
allele num: 117686
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-45delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-45delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-45delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-45delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-45delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-45delT
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13900
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24237
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7790
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3085
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6505
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3453
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: CA
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-1091033-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091033
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091033
    reference: chr 19
allele count: 1
allele frequency: 8.496032352891199e-6
allele num: 117702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-46T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-46T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-46T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-46T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-46T>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-46T>G
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24411
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-1091033-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091033
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091032
    reference: chr 19
allele count: 12
allele frequency: 1.019523882346944e-4
allele num: 117702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-47delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-47delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-47delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-47delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-47delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-47delG
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13910
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24411
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2262
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2894
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6528
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: AC
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

19-1091035-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091035
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091035
    reference: chr 19
allele count: 3
allele frequency: 2.549329526334574e-5
allele num: 117678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-48G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-48G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-48G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-48G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-48G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-48G>A
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5501
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24345
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3671
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3786
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2385
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

19-1091039-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091039
    reference: chr 19
allele count: 11
allele frequency: 9.373029533563966e-5
allele num: 117358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-52T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-52T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-52T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-52T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-52T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-52T>C
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24117
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-1091039-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091038
    reference: chr 19
allele count: 1
allele frequency: 8.520935939603607e-6
allele num: 117358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*18-53delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*115-53delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1589-53delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.151-53delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.349-53delG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.349-53delG
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24117
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: AC
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

19-1091740-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091740
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091740
    reference: chr 19
allele count: 8
allele frequency: 7.403431490495845e-5
allele num: 108058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+51C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.445C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+51C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+51C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+51C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+51C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+51C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11711
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10389
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10350
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6572
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3035
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2713
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

19-1091742-GGAGGCTGGGGAGGGGGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091742
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091725
    reference: chr 19
allele count: 45
allele frequency: 4.168905523336607e-4
allele num: 107942
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11959
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3703
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6434
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: GGAGGCTGGGGAGGGGGA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

19-1091744-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091744
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091744
    reference: chr 19
allele count: 1
allele frequency: 9.277470590418228e-6
allele num: 107788
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+47T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.441T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+47T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+47T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+47T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+47T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+47T>C
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1091750-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091750
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091750
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 108896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+41C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+41C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+41C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+41C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+41C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+41C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.435C>G
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2065
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 901
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6940
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1928
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5528
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-1091754-GGGGGAGAGGCTGGC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091754
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091740
    reference: chr 19
allele count: 1
allele frequency: 9.106307028247765e-6
allele num: 109814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12403
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3307
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5704
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: GGGGGAGAGGCTGGC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum

19-1091755-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091755
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091755
    reference: chr 19
allele count: 1
allele frequency: 9.082982124691178e-6
allele num: 110096
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+36C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+36C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+36C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+36C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+36C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.430C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+36C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5499
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16276
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1882
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5712
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

19-1091757-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091757
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091757
    reference: chr 19
allele count: 8
allele frequency: 7.430386565861088e-5
allele num: 107666
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+34C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+34C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+34C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.428C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+34C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+34C>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+34C>A
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14517
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13217
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9017
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

19-1091758-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091758
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091757
    reference: chr 19
allele count: 1
allele frequency: 9.240777703851557e-6
allele num: 108216
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+32delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+32delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+32delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+32delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+32delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.426delT
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+32delT
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6580
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: GA
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

19-1091759-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091759
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091759
    reference: chr 19
allele count: 249
allele frequency: 2.323368043892062e-3
allele num: 107172
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+32T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.426T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+32T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+32T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+32T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+32T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+32T>A
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 7.5e0
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9544
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13392
  bin: 2.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 13650
  bin: 2.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 4556
  bin: 3.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14710
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

19-1091761-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091761
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091761
    reference: chr 19
allele count: 5
allele frequency: 4.652980699436059e-5
allele num: 107458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+30T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+30T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+30T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+30T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.424T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+30T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+30T>C
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9966
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13788
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4794
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

19-1091768-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091769
    reference: chr 19
allele count: 2
allele frequency: 1.886400935654864e-5
allele num: 106022
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+22dupC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.416dupC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+22dupC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+22dupC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+22dupC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+22dupC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+22dupC
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14475
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

19-1091768-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091768
    reference: chr 19
allele count: 134
allele frequency: 1.263888626888759e-3
allele num: 106022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+23G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+23G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+23G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.417G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+23G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+23G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+23G>C
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 14475
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2825
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 1.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 18984
  bin: 6.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 13
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-1091768-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091768
    reference: chr 19
allele count: 3
allele frequency: 2.829601403482296e-5
allele num: 106022
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+23G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+23G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+23G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+23G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+23G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.417G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+23G>A
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-1091768-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091768
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091767
    reference: chr 19
allele count: 1
allele frequency: 9.432004678274321e-6
allele num: 106022
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+22delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+22delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.416delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+22delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+22delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+22delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+22delC
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2069
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5699
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: CG
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

19-1091773-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091773
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091773
    reference: chr 19
allele count: 5665
allele frequency: 9.480854197349042e-2
allele num: 59752
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+18A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+18A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.412A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+18A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+18A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+18A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+18A>C
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 4.25e1
  variant carriers: 674
genotype depth: GenotypeDepth
  all individuals: 6434
  bin: 3.75e1
  variant carriers: 923
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 11457
  bin: 2.75e1
  variant carriers: 1189
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 4.75e1
  variant carriers: 461
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10053
  bin: 2.25e1
  variant carriers: 870
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 1.25e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 7.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5551
  bin: 1.75e1
  variant carriers: 495
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 5.75e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 6.25e1
  variant carriers: 134
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 5.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 9097
  bin: 3.25e1
  variant carriers: 1114
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 4.25e1
  variant carriers: 408
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 7.75e1
  variant carriers: 239
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 3.25e1
  variant carriers: 394
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.25e1
  variant carriers: 274
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.25e1
  variant carriers: 221
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 2.75e1
  variant carriers: 416
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 3.75e1
  variant carriers: 437
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 1.75e1
  variant carriers: 348
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 1.25e1
  variant carriers: 310
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.5e0
  variant carriers: 341
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-1091774-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091774
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091774
    reference: chr 19
allele count: 1
allele frequency: 8.688852202624033e-6
allele num: 115090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+17C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+17C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+17C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+17C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+17C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+17C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.411C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1817
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-1091778-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091778
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091778
    reference: chr 19
allele count: 8
allele frequency: 7.035812284528248e-5
allele num: 113704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.407G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+13G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+13G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+13G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+13G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+13G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+13G>C
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14230
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4059
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14753
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7475
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4164
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 2.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-1091779-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091779
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091778
    reference: chr 19
allele count: 2
allele frequency: 1.730972287133683e-5
allele num: 115542
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+11delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+11delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+11delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+11delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.405delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+11delC
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+11delC
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15182
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: AG
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS

19-1091784-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091784
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091784
    reference: chr 19
allele count: 349
allele frequency: 3.407071870667942e-3
allele num: 102434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+7A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+7A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.401A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+7A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+7A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+7A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+7A>C
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 5.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14480
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 4.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 8242
  bin: 3.75e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 4.75e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 14314
  bin: 3.25e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 9.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 4.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 3.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 1.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 2821
  bin: 2.25e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 4.25e1
  variant carriers: 28
hgvs: c.348+7A>C
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD

19-1091785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091785
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091785
    reference: chr 19
allele count: 1
allele frequency: 8.54627809588924e-6
allele num: 117010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348+6C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.400C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588+6C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17+6C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150+6C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348+6C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114+6C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7650
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 3.75e1
  variant carriers: 0
hgvs: c.348+6C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-1091791-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091791
    reference: chr 19
allele count: 2
allele frequency: 1.699062117711024e-5
allele num: 117712
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.394G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348G>T
  hgvsp: ENSP00000215587.6:p.Gln116His
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348G>T
  hgvsp: ENSP00000464739.1:p.Gln116His
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln116His
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

19-1091791-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091791
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091791
    reference: chr 19
allele count: 1
allele frequency: 8.495310588555118e-6
allele num: 117712
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.348G>C
  hgvsp: ENSP00000215587.6:p.Gln116His
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1588G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.150G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*17G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.348G>C
  hgvsp: ENSP00000464739.1:p.Gln116His
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.394G>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*114G>C
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln116His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/19-1091799-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091799
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091799
    reference: chr 19
allele count: 8
allele frequency: 6.770251514843777e-5
allele num: 118164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*9G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.340G>T
  hgvsp: ENSP00000215587.6:p.Ala114Ser
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*106G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.142G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.340G>T
  hgvsp: ENSP00000464739.1:p.Ala114Ser
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.386G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1580G>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17487
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2651
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala114Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

19-1091800-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091800
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091800
    reference: chr 19
allele count: 2
allele frequency: 1.69061707523246e-5
allele num: 118300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1579C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.385C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.339C>T
  hgvsp: ENST00000586746.1:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.339C>T
  hgvsp: ENST00000215587.7:c.339C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.141C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*105C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7619
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser113Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

19-1091806-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091806
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091806
    reference: chr 19
allele count: 18
allele frequency: 1.532358299422812e-4
allele num: 117466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*99A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1573A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.135A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.*2A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.333A>C
  hgvsp: ENST00000586746.1:c.333A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.333A>C
  hgvsp: ENST00000215587.7:c.333A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.379A>C
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 17486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12717
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Thr111Thr
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: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

19-1091810-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091810
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091810
    reference: chr 19
allele count: 1
allele frequency: 8.404915194405689e-6
allele num: 118978
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.329T>A
  hgvsp: ENSP00000215587.6:p.Met110Lys
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.154T>A
  hgvsp: ENSP00000467905.1:p.Ter52ArgextTer34
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.131T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*95T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.329T>A
  hgvsp: ENSP00000464739.1:p.Met110Lys
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1569T>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.375T>A
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17623
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ter52ArgextTer34
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-1091811-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091811
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091811
    reference: chr 19
allele count: 83
allele frequency: 6.973149174984037e-4
allele num: 119028
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*94A>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.130A>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.374A>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.328A>G
  hgvsp: ENSP00000215587.6:p.Met110Val
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.153A>G
  hgvsp: ENST00000589737.1:c.153A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1568A>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.328A>G
  hgvsp: ENSP00000464739.1:p.Met110Val
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 17608
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7532
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31136
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Met110Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

19-1091816-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091816
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091816
    reference: chr 19
allele count: 1
allele frequency: 8.385322331790435e-6
allele num: 119256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1563A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.323A>C
  hgvsp: ENSP00000215587.6:p.Gln108Pro
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.148A>C
  hgvsp: ENST00000589737.1:c.148A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*89A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.369A>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.323A>C
  hgvsp: ENSP00000464739.1:p.Gln108Pro
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.125A>C
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln108Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

19-1091826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091826
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091826
    reference: chr 19
allele count: 1
allele frequency: 8.359386755387625e-6
allele num: 119626
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.359G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.313G>A
  hgvsp: ENSP00000464739.1:p.Val105Met
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*79G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1553G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.115G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.313G>A
  hgvsp: ENSP00000215587.6:p.Val105Met
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.138G>A
  hgvsp: ENST00000589737.1:c.138G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val105Met
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-1091827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091827
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091827
    reference: chr 19
allele count: 7
allele frequency: 5.848246361555299e-5
allele num: 119694
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.312C>T
  hgvsp: ENST00000586746.1:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.114C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.358C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.312C>T
  hgvsp: ENST00000215587.7:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*78C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1552C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.137C>T
  hgvsp: ENSP00000467905.1:p.Ser46Leu
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser46Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-1091833-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091833
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091833
    reference: chr 19
allele count: 1
allele frequency: 8.342927700188551e-6
allele num: 119862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1546T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.131T>C
  hgvsp: ENSP00000467905.1:p.Leu44Pro
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.352T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.306T>C
  hgvsp: ENST00000586746.1:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.306T>C
  hgvsp: ENST00000215587.7:c.306T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.108T>C
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*72T>C
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9219
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu44Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/19-1091835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091835
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091835
    reference: chr 19
allele count: 1
allele frequency: 8.339866228545694e-6
allele num: 119906
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.304G>T
  hgvsp: ENSP00000215587.6:p.Ala102Ser
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.129G>T
  hgvsp: ENST00000589737.1:c.129G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.350G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.304G>T
  hgvsp: ENSP00000464739.1:p.Ala102Ser
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.106G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1544G>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*70G>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2225
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala102Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

19-1091838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091838
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091838
    reference: chr 19
allele count: 7
allele frequency: 5.831681023709949e-5
allele num: 120034
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1541C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.301C>T
  hgvsp: ENSP00000464739.1:p.Arg101Trp
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.347C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*67C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.301C>T
  hgvsp: ENSP00000215587.6:p.Arg101Trp
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.126C>T
  hgvsp: ENST00000589737.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.103C>T
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13093
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg101Trp
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

19-1091840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091840
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091840
    reference: chr 19
allele count: 15
allele frequency: 1.249084005062954e-4
allele num: 120088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.345C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1539C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.101C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.299C>T
  hgvsp: ENSP00000464739.1:p.Thr100Ile
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.124C>T
  hgvsp: ENSP00000467905.1:p.His42Tyr
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.299C>T
  hgvsp: ENSP00000215587.6:p.Thr100Ile
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13092
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr100Ile
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-1091842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091842
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091842
    reference: chr 19
allele count: 52
allele frequency: 4.328283669052772e-4
allele num: 120140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1537C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.343C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.122C>T
  hgvsp: ENSP00000467905.1:p.Ser41Leu
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.297C>T
  hgvsp: ENST00000215587.7:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.99C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*63C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.297C>T
  hgvsp: ENST00000586746.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9337
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17638
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31873
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser41Leu
num of homozygotes: 2
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

19-1091845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091845
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091845
    reference: chr 19
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.340C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.96C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.119C>T
  hgvsp: ENSP00000467905.1:p.Thr40Ile
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*60C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1534C>T
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.294C>T
  hgvsp: ENST00000586746.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.294C>T
  hgvsp: ENST00000215587.7:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31918
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr40Ile
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-1091846-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091846
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091846
    reference: chr 19
allele count: 2
allele frequency: 1.663616702711695e-5
allele num: 120220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.95A>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1533A>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.293A>G
  hgvsp: ENSP00000215587.6:p.Asn98Ser
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.118A>G
  hgvsp: ENSP00000467905.1:p.Thr40Ala
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*59A>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.339A>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.293A>G
  hgvsp: ENSP00000464739.1:p.Asn98Ser
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13100
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn98Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

19-1091847-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091847
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091844
    reference: chr 19
allele count: 2
allele frequency: 1.663506005256679e-5
allele num: 120228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.289_291delGAG
  hgvsp: ENSP00000215587.6:p.Glu97del
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.91_93delGAG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.289_291delGAG
  hgvsp: ENSP00000464739.1:p.Glu97del
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.114_116delGAG
  hgvsp: ENSP00000467905.1:p.Arg39del
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.335_337delGAG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1529_1531delGAG
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*55_*57delGAG
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu97del
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: TCTC
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-1091851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091851
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091851
    reference: chr 19
allele count: 1
allele frequency: 8.314210648840998e-6
allele num: 120276
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.288G>A
  hgvsp: ENST00000215587.7:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*54G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.334G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1528G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.113G>A
  hgvsp: ENSP00000467905.1:p.Arg38Lys
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.288G>A
  hgvsp: ENST00000586746.1:c.288G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.90G>A
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg38Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-1091869-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091869
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091869
    reference: chr 19
allele count: 2
allele frequency: 1.661957786272229e-5
allele num: 120340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.95C>G
  hgvsp: ENSP00000467905.1:p.Thr32Ser
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1510C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*36C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.72C>G
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.270C>G
  hgvsp: ENSP00000464739.1:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.270C>G
  hgvsp: ENSP00000215587.6:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.316C>G
  variant of: http://identifiers.org/hgnc/9192
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7541
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr90Ter
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-1091872-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1091872
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 1091872
    reference: chr 19
allele count: 2
allele frequency: 1.661930165694438e-5
allele num: 120342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000591709
  gene symbol: POLR2E
  hgvsc: ENST00000591709.1:n.313G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000585838
  gene symbol: POLR2E
  hgvsc: ENST00000585838.1:n.69G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000467905
  ensembl transcript: ENST00000589737
  gene symbol: POLR2E
  hgvsc: ENST00000589737.1:c.92G>A
  hgvsp: ENSP00000467905.1:p.Cys31Tyr
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000465066
  ensembl transcript: ENST00000591767
  gene symbol: POLR2E
  hgvsc: ENST00000591767.1:c.*33G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000215587
  ensembl transcript: ENST00000215587
  gene symbol: POLR2E
  hgvsc: ENST00000215587.7:c.267G>A
  hgvsp: ENST00000215587.7:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000099817
  ensembl transcript: ENST00000586817
  gene symbol: POLR2E
  hgvsc: ENST00000586817.1:n.1507G>A
  variant of: http://identifiers.org/hgnc/9192
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000099817
  ensembl protein: ENSP00000464739
  ensembl transcript: ENST00000586746
  gene symbol: POLR2E
  hgvsc: ENST00000586746.1:c.267G>A
  hgvsp: ENST00000586746.1:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9192
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7542
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13117
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys31Tyr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS

GenotypeQuality
all individuals: 925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8645
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
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: 10202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527137228551358e-5
allele num: 65482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

DP
type: SiteQuality
SIO_000300: 1.544544e6

FS
type: SiteQuality
SIO_000300: 1.286e0

QD
type: SiteQuality
SIO_000300: 1.012e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.402e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 141
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8642
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2375
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527043948324833e-5
allele num: 65486
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0438e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.443e0

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 1.54443e6

VQSLOD
type: SiteQuality
SIO_000300: -1.343e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.143e1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2398
bin: 9.75e1
variant carriers: 30

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38268
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

South Asian
type: Population
allele count: 31
allele frequency: 1.881067961165049e-3
allele num: 16480
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

QD
type: SiteQuality
SIO_000300: 1.157e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.545327e6

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65484
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

QD
type: SiteQuality
SIO_000300: 1.157e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.285e0

DP
type: SiteQuality
SIO_000300: 1.545327e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1996
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527417137620284e-5
allele num: 65470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: -3.489e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.986e0

MQ
type: SiteQuality
SIO_000300: 5.829e1

MQRankSum
type: SiteQuality
SIO_000300: -4.41e-1

DP
type: SiteQuality
SIO_000300: 1.54393e6

QD
type: SiteQuality
SIO_000300: 3.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.474e0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.51288056206089e-4
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527790509365356e-5
allele num: 65454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.511e0

DP
type: SiteQuality
SIO_000300: 1.542651e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.488e0

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 192
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37730
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 1.539239e6

FS
type: SiteQuality
SIO_000300: 1.012e0

VQSLOD
type: SiteQuality
SIO_000300: -1.115e-1

QD
type: SiteQuality
SIO_000300: 3.027e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e0

GenotypeQuality
all individuals: 3090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2371
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
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: 10168
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 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: 1.531159087429184e-5
allele num: 65310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.537e0

MQ
type: SiteQuality
SIO_000300: 5.827e1

MQRankSum
type: SiteQuality
SIO_000300: -2.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.483e0

DP
type: SiteQuality
SIO_000300: 1.534175e6

FS
type: SiteQuality
SIO_000300: 1.963e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2793
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36871
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.08198515995621e-5
allele num: 16442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

FS
type: SiteQuality
SIO_000300: 2.333e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

DP
type: SiteQuality
SIO_000300: 1.549394e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

GenotypeQuality
all individuals: 767
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2948
bin: 9.75e1
variant carriers: 625

GenotypeQuality
all individuals: 966
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2793
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 350
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 1

Latino
type: Population
allele count: 29
allele frequency: 2.529658060013957e-3
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.063068582105554e-4
allele num: 65294
num of homozygotes: 0

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

Other
type: Population
allele count: 3
allele frequency: 3.378378378378379e-3
allele num: 888
num of homozygotes: 0

African
type: Population
allele count: 580
allele frequency: 5.701926858041683e-2
allele num: 10172
num of homozygotes: 14

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 17
allele frequency: 2.641392169049099e-3
allele num: 6436
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

QD
type: SiteQuality
SIO_000300: 1.28e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

FS
type: SiteQuality
SIO_000300: 2.333e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.62e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 1.549394e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

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

GenotypeQuality
all individuals: 8554
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1978
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2823
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37004
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.081245439065921e-5
allele num: 16444
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.173984503404555e-4
allele num: 8518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65286
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.875e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

QD
type: SiteQuality
SIO_000300: 9.99e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 5.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.892e-1

DP
type: SiteQuality
SIO_000300: 1.53481e6

GenotypeQuality
all individuals: 981
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2536
bin: 9.75e1
variant carriers: 172

GenotypeQuality
all individuals: 96
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36991
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3082
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 102
allele frequency: 1.004134672179563e-2
allele num: 10158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 44
allele frequency: 6.741848492277519e-4
allele num: 65264
num of homozygotes: 0

Latino
type: Population
allele count: 26
allele frequency: 2.267573696145125e-3
allele num: 11466
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 6.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.602e0

VQSLOD
type: SiteQuality
SIO_000300: 4.37e0

DP
type: SiteQuality
SIO_000300: 1.538832e6

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

GenotypeQuality
all individuals: 2380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2811
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36305
bin: 6.25e1
variant carriers: 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: 10134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533742331288344e-5
allele num: 65200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.622e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

FS
type: SiteQuality
SIO_000300: 8.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.526871e6

GenotypeQuality
all individuals: 990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3095
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65200
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: 10134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.622e1

DP
type: SiteQuality
SIO_000300: 1.526871e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

GenotypeQuality
all individuals: 990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34061
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8257
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537420822827624e-5
allele num: 65044
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.829268292682927e-4
allele num: 16400
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 7.213e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.506951e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.87e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1472
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539598472718315e-5
allele num: 64952
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.502e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

FS
type: SiteQuality
SIO_000300: 5.894e0

QD
type: SiteQuality
SIO_000300: 1.167e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

DP
type: SiteQuality
SIO_000300: 1.491914e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-1

GenotypeQuality
all individuals: 600
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1734
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539598472718315e-5
allele num: 64952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.894e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

DP
type: SiteQuality
SIO_000300: 1.491914e6

QD
type: SiteQuality
SIO_000300: 1.167e1

VQSLOD
type: SiteQuality
SIO_000300: -1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.502e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

GenotypeQuality
all individuals: 772
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7689
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1726
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.182312603452353e-4
allele num: 8458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.081949024563134e-5
allele num: 64894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 5.242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

QD
type: SiteQuality
SIO_000300: 5.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

DP
type: SiteQuality
SIO_000300: 1.488789e6

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: -3.368e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

GenotypeQuality
all individuals: 164
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2392
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540974512281567e-5
allele num: 64894
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.891967730620835e-4
allele num: 11404
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.368e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.37e0

MQ
type: SiteQuality
SIO_000300: 5.242e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-2

DP
type: SiteQuality
SIO_000300: 1.488789e6

GenotypeQuality
all individuals: 1992
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29978
bin: 6.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54206760424377e-5
allele num: 64848
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.713e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.856e0

VQSLOD
type: SiteQuality
SIO_000300: -1.267e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.472915e6

GenotypeQuality
all individuals: 2450
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 992
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.938382031405287e-5
allele num: 10062
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.998e0

MQRankSum
type: SiteQuality
SIO_000300: -5.017e0

QD
type: SiteQuality
SIO_000300: 6.42e0

MQ
type: SiteQuality
SIO_000300: 4.692e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 1.472942e6

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

GenotypeQuality
all individuals: 2374
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2377
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 773
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2501
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1401
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64762
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.950248756218905e-5
allele num: 10050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.602e0

VQSLOD
type: SiteQuality
SIO_000300: -1.484e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.47e-1

QD
type: SiteQuality
SIO_000300: 1.659e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

DP
type: SiteQuality
SIO_000300: 1.459651e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.953e1

GenotypeQuality
all individuals: 6870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2380
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 771
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.989626969878316e-4
allele num: 10026
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 1.450696e6

QD
type: SiteQuality
SIO_000300: 1.162e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.908e0

FS
type: SiteQuality
SIO_000300: 5.872e0

VQSLOD
type: SiteQuality
SIO_000300: 8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

GenotypeQuality
all individuals: 995
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variant carriers: 0

GenotypeQuality
all individuals: 2620
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
all individuals: 1485
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25241
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2379
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.241e0

QD
type: SiteQuality
SIO_000300: 1.05e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.531e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.531e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.503e0

DP
type: SiteQuality
SIO_000300: 1.447989e6

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2549
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547029702970297e-5
allele num: 64640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 3.452e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.446239e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

QD
type: SiteQuality
SIO_000300: 1.085e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11344
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.226692836113837e-4
allele num: 16304
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.437277e6

FS
type: SiteQuality
SIO_000300: 1.698e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.394e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3454
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variant carriers: 0

GenotypeQuality
all individuals: 2083
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551686683424883e-5
allele num: 64446
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

QD
type: SiteQuality
SIO_000300: 1.193e1

FS
type: SiteQuality
SIO_000300: 9.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 1.435179e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1600
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2394
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variant carriers: 12

GenotypeQuality
all individuals: 995
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.141552511415525e-3
allele num: 876
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.194172438500119e-3
allele num: 8374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551686683424883e-5
allele num: 64446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.193e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

FS
type: SiteQuality
SIO_000300: 9.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-1

DP
type: SiteQuality
SIO_000300: 1.435179e6

GenotypeQuality
all individuals: 2395
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 776
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variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.997203914519672e-4
allele num: 10014
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552120196187993e-5
allele num: 64428
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

FS
type: SiteQuality
SIO_000300: 1.506e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.144e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.161e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

DP
type: SiteQuality
SIO_000300: 1.435629e6

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
all individuals: 6500
bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 11

GenotypeQuality
all individuals: 1970
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4167
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

East Asian
type: Population
allele count: 11
allele frequency: 1.317365269461078e-3
allele num: 8350
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16294
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.43693e6

FS
type: SiteQuality
SIO_000300: 1.174e0

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 1.416e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 1001
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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
all individuals: 3003
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variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.416e1

FS
type: SiteQuality
SIO_000300: 1.174e0

DP
type: SiteQuality
SIO_000300: 1.43693e6

MQRankSum
type: SiteQuality
SIO_000300: -2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-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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variant carriers: 8

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 9.84251968503937e-4
allele num: 8128
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.404462e6

VQSLOD
type: SiteQuality
SIO_000300: -2.611e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2165
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GenotypeQuality
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GenotypeQuality
all individuals: 1808
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GenotypeQuality
all individuals: 966
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

South Asian
type: Population
allele count: 45
allele frequency: 2.826988315114964e-3
allele num: 15918
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.256e1

DP
type: SiteQuality
SIO_000300: 1.407071e6

GenotypeQuality
all individuals: 674
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2434
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variant carriers: 0

GenotypeQuality
all individuals: 5123
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variant carriers: 0

GenotypeQuality
all individuals: 3161
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GenotypeQuality
all individuals: 2654
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GenotypeQuality
all individuals: 3053
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GenotypeQuality
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GenotypeQuality
all individuals: 6399
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variant carriers: 0

GenotypeQuality
all individuals: 2156
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8106
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5842
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.252191334835963e-4
allele num: 7986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15788
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.76e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.41293e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.819e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.68e-1

GenotypeQuality
all individuals: 2221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2921
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2751
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1541
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59032
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 2.34e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.787e0

DP
type: SiteQuality
SIO_000300: 1.451374e6

MQ
type: SiteQuality
SIO_000300: 5.787e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 722
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3514
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 205
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1778
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.679035561973203e-5
allele num: 59558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.490047e6

VQSLOD
type: SiteQuality
SIO_000300: -1.302e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

QD
type: SiteQuality
SIO_000300: 3.63e0

MQ
type: SiteQuality
SIO_000300: 5.773e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

GenotypeQuality
all individuals: 276
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2936
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.674424835069154e-5
allele num: 59722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11010
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.498693e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

QD
type: SiteQuality
SIO_000300: 3.047e1

VQSLOD
type: SiteQuality
SIO_000300: -3.166e0

MQ
type: SiteQuality
SIO_000300: 5.863e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.226e0

GenotypeQuality
all individuals: 2823
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2531
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2387
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3410
bin: 9.75e1
variant carriers: 8

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58278
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.945300845350571e-4
allele num: 8044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.366e0

DP
type: SiteQuality
SIO_000300: 1.513549e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.103e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.083e1

MQ
type: SiteQuality
SIO_000300: 5.743e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.489e0

GenotypeQuality
all individuals: 495
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3407
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.704739174906239e-5
allele num: 58660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.917e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.969e0

DP
type: SiteQuality
SIO_000300: 1.519371e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

MQ
type: SiteQuality
SIO_000300: 6.018e1

QD
type: SiteQuality
SIO_000300: 1.922e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

GenotypeQuality
all individuals: 3216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5878
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 697
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2984
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6170
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2303
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3612
bin: 9.75e1
variant carriers: 241

GenotypeQuality
all individuals: 2811
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1590
bin: 4.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 181
allele frequency: 3.11553291104379e-3
allele num: 58096
num of homozygotes: 1

African
type: Population
allele count: 1
allele frequency: 1.236093943139679e-4
allele num: 8090
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.256913021618904e-4
allele num: 15912
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.55478324492409e-3
allele num: 10934
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.624671916010499e-3
allele num: 762
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 46
allele frequency: 8.505917159763314e-3
allele num: 5408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.874e1

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.53269e6

QD
type: SiteQuality
SIO_000300: 1.155e1

GenotypeQuality
all individuals: 3196
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3396
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1083
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2859
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.246876561719141e-4
allele num: 8004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 8.390000000000001e0

DP
type: SiteQuality
SIO_000300: 1.55245e6

FS
type: SiteQuality
SIO_000300: 3.887e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.923e1

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18984
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.999200319872051e-4
allele num: 5002
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.24898261191269e-5
allele num: 10812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57522
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-2

FS
type: SiteQuality
SIO_000300: 1.9271e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

QD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.587824e6

MQ
type: SiteQuality
SIO_000300: 5.635e1

GenotypeQuality
all individuals: 3442
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 2033
bin: 7.5e0
variant carriers: 16

GenotypeQuality
all individuals: 5699
bin: 2.25e1
variant carriers: 19

GenotypeQuality
all individuals: 1430
bin: 4.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2512
bin: 2.5e0
variant carriers: 10

GenotypeQuality
all individuals: 2763
bin: 3.25e1
variant carriers: 11

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1142
bin: 4.25e1
variant carriers: 12

GenotypeQuality
all individuals: 2437
bin: 3.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2069
bin: 8.25e1
variant carriers: 6

African
type: Population
allele count: 33
allele frequency: 4.157218442932729e-3
allele num: 7938
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 4.0e-3
allele num: 750
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.022601707684581e-4
allele num: 7964
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.549389567147614e-4
allele num: 10812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 13
allele frequency: 2.598960415833667e-3
allele num: 5002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 75
allele frequency: 1.303848962136226e-3
allele num: 57522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.9271e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.587824e6

MQ
type: SiteQuality
SIO_000300: 5.635e1

GenotypeQuality
all individuals: 2069
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1960
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.476930565696603e-5
allele num: 57522
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.236746912810279e-5
allele num: 16034
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-2

QD
type: SiteQuality
SIO_000300: 1.42e0

DP
type: SiteQuality
SIO_000300: 1.587824e6

FS
type: SiteQuality
SIO_000300: 1.9271e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

GenotypeQuality
all individuals: 1228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3442
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2763
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2825
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 2.5e0
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GenotypeQuality
all individuals: 721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2437
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.738465282848302e-5
allele num: 57522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10812
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

QD
type: SiteQuality
SIO_000300: 1.42e0

FS
type: SiteQuality
SIO_000300: 1.9271e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.105e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.587824e6

GenotypeQuality
all individuals: 1920
bin: 4.75e1
variant carriers: 371

GenotypeQuality
all individuals: 1842
bin: 5.25e1
variant carriers: 360

GenotypeQuality
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bin: 5.75e1
variant carriers: 355

GenotypeQuality
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bin: 6.75e1
variant carriers: 285

GenotypeQuality
all individuals: 19501
bin: 2.5e0
variant carriers: 197

GenotypeQuality
all individuals: 1209
bin: 9.75e1
variant carriers: 929

GenotypeQuality
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bin: 2.25e1
variant carriers: 370

GenotypeQuality
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bin: 6.25e1
variant carriers: 302

GenotypeQuality
all individuals: 275
bin: 9.25e1
variant carriers: 144

GenotypeQuality
all individuals: 310
bin: 8.75e1
variant carriers: 181

European (Finnish)
type: Population
allele count: 505
allele frequency: 1.682211858760826e-1
allele num: 3002
num of homozygotes: 0

South Asian
type: Population
allele count: 709
allele frequency: 9.302020467069011e-2
allele num: 7622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2657
allele frequency: 7.671652133741411e-2
allele num: 34634
num of homozygotes: 0

East Asian
type: Population
allele count: 571
allele frequency: 1.437562940584089e-1
allele num: 3972
num of homozygotes: 0

African
type: Population
allele count: 535
allele frequency: 1.09721082854799e-1
allele num: 4876
num of homozygotes: 0

Latino
type: Population
allele count: 647
allele frequency: 1.234261732163296e-1
allele num: 5242
num of homozygotes: 0

Other
type: Population
allele count: 41
allele frequency: 1.014851485148515e-1
allele num: 404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 3.0443e1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.516e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.238e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

QD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.771144e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.136e0

GenotypeQuality
all individuals: 1337
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 947
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variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6488
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variant carriers: 1

GenotypeQuality
all individuals: 148
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variant carriers: 0

GenotypeQuality
all individuals: 1705
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variant carriers: 0

GenotypeQuality
all individuals: 108
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variant carriers: 0

GenotypeQuality
all individuals: 9364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3725
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variant carriers: 0

GenotypeQuality
all individuals: 4354
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593066972535525e-5
allele num: 62772
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.819181e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.65e-1

FS
type: SiteQuality
SIO_000300: 1.371e0

VQSLOD
type: SiteQuality
SIO_000300: -2.612e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.011e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 2.923e1

GenotypeQuality
all individuals: 1072
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9323
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 783
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6258
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 916
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 849
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 8.865248226950354e-4
allele num: 5640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.802920175466684e-5
allele num: 62462
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.429e0

QD
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.336e0

FS
type: SiteQuality
SIO_000300: 2.0001e1

MQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

DP
type: SiteQuality
SIO_000300: 1.840793e6

MQ
type: SiteQuality
SIO_000300: 5.787e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

GenotypeQuality
all individuals: 770
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21635
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1885
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variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3048
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10027
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3889
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8310
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.226692836113837e-4
allele num: 16304
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.854129e6

MQ
type: SiteQuality
SIO_000300: 5.521e1

QD
type: SiteQuality
SIO_000300: 2.51e1

FS
type: SiteQuality
SIO_000300: 3.092e0

GenotypeQuality
all individuals: 750
bin: 9.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1505
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2134
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 4373
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variant carriers: 30

GenotypeQuality
all individuals: 18051
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variant carriers: 19

GenotypeQuality
all individuals: 1700
bin: 2.75e1
variant carriers: 37

GenotypeQuality
all individuals: 1800
bin: 3.25e1
variant carriers: 30

GenotypeQuality
all individuals: 2195
bin: 5.75e1
variant carriers: 22

GenotypeQuality
all individuals: 1095
bin: 1.25e1
variant carriers: 39

GenotypeQuality
all individuals: 7704
bin: 6.75e1
variant carriers: 17

GenotypeQuality
all individuals: 606
bin: 8.75e1
variant carriers: 7

GenotypeQuality
all individuals: 2630
bin: 7.25e1
variant carriers: 12

Other
type: Population
allele count: 3
allele frequency: 4.23728813559322e-3
allele num: 708
num of homozygotes: 0

South Asian
type: Population
allele count: 32
allele frequency: 2.290950744558992e-3
allele num: 13968
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.759737212576255e-3
allele num: 8524
num of homozygotes: 0

East Asian
type: Population
allele count: 20
allele frequency: 2.735978112175103e-3
allele num: 7310
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 148
allele frequency: 3.163745190252244e-2
allele num: 4678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 120
allele frequency: 2.106889528759042e-3
allele num: 56956
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 1.068999028182702e-3
allele num: 10290
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 7.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQ
type: SiteQuality
SIO_000300: 5.929e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.642e0

DP
type: SiteQuality
SIO_000300: 1.924826e6

FS
type: SiteQuality
SIO_000300: 5.8852e1

VQSLOD
type: SiteQuality
SIO_000300: -1.658e1

GenotypeQuality
all individuals: 439
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 922
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variant carriers: 0

GenotypeQuality
all individuals: 60
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 27829
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2906
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564896247378799e-5
allele num: 63902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: -1.857e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.498e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 1.4724e1

DP
type: SiteQuality
SIO_000300: 1.820106e6

QD
type: SiteQuality
SIO_000300: 1.345e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29650
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 248
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GenotypeQuality
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GenotypeQuality
all individuals: 1378
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GenotypeQuality
all individuals: 2715
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2282
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variant carriers: 0

GenotypeQuality
all individuals: 4237
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GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.105006105006105e-5
allele num: 16380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554533018281308e-5
allele num: 64328
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e0

FS
type: SiteQuality
SIO_000300: 1.3702e1

DP
type: SiteQuality
SIO_000300: 1.8341e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.083e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

QD
type: SiteQuality
SIO_000300: 9.43e0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
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variant carriers: 0

GenotypeQuality
all individuals: 387
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27
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GenotypeQuality
all individuals: 2715
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12817
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29650
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64328
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.86e-1

QD
type: SiteQuality
SIO_000300: 9.43e0

FS
type: SiteQuality
SIO_000300: 1.3702e1

DP
type: SiteQuality
SIO_000300: 1.8341e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.083e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: -2.65e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

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

European (Finnish)
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allele count: 2
allele frequency: 3.043213633597079e-4
allele num: 6572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.286775631500742e-5
allele num: 64608
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

DP
type: SiteQuality
SIO_000300: 1.842531e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64670
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South Asian
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allele frequency: 1.219958521410272e-4
allele num: 16394
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MQRankSum
type: SiteQuality
SIO_000300: 4.53e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 5.44e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.545738399233314e-5
allele num: 64694
num of homozygotes: 0

African
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allele frequency: 1.008878127522195e-4
allele num: 9912
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 15
allele frequency: 2.635277582572031e-3
allele num: 5692
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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SIO_000300: 1.857168e6

BaseQRankSum
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SIO_000300: -3.659e0

ClippingRankSum
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MQ
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FS
type: SiteQuality
SIO_000300: 6.4523e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9992
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South Asian
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allele count: 1
allele frequency: 6.091617933723197e-5
allele num: 16416
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65096
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East Asian
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allele frequency: 0.0e0
allele num: 8530
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.31e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 2.089e0

QD
type: SiteQuality
SIO_000300: 1.051e1

DP
type: SiteQuality
SIO_000300: 1.844364e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.94e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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European (Finnish)
type: Population
allele count: 4
allele frequency: 6.055101422948834e-4
allele num: 6606
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.0e-4
allele num: 10000
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European (Non-Finnish)
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allele count: 77
allele frequency: 1.182141979857529e-3
allele num: 65136
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.848859e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.925e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.249e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53261402648357e-5
allele num: 65248
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

BaseQRankSum
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MQ
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SIO_000300: 5.796e1

ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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Latino
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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African
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allele num: 10114
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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InbreedingCoeff
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MQ
type: SiteQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
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Latino
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South Asian
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allele frequency: 6.079766536964981e-5
allele num: 16448
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East Asian
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allele frequency: 1.166044776119403e-4
allele num: 8576
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.101839704670958e-5
allele num: 65554
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
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QD
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DP
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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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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East Asian
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allele num: 8590
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Latino
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele num: 65642
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Other
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European (Finnish)
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South Asian
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VQSLOD
type: SiteQuality
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QD
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 13079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31765
bin: 6.25e1
variant carriers: 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: 888
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65670
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.047e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.539e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.61e-1

FS
type: SiteQuality
SIO_000300: 3.941e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.21e-1

DP
type: SiteQuality
SIO_000300: 1.853228e6

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

QD
type: SiteQuality
SIO_000300: 9.58e0

GenotypeQuality
all individuals: 4211
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4197
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 5
allele frequency: 4.902922141596392e-4
allele num: 10198
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520820026158104e-5
allele num: 65754
num of homozygotes: 0

European (Finnish)
type: Population
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: 8592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.818e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.517e-1

DP
type: SiteQuality
SIO_000300: 1.855426e6

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.191e1

GenotypeQuality
all individuals: 2224
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31852
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 4198
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1010
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 12
allele frequency: 1.042390548992356e-3
allele num: 11512
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: 890
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.560656734569778e-5
allele num: 65780
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.492e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.855892e6

GenotypeQuality
all individuals: 2478
bin: 9.75e1
variant carriers: 50

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 52
allele frequency: 7.901534721166996e-4
allele num: 65810
num of homozygotes: 2

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.905e0

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.87e-2

FS
type: SiteQuality
SIO_000300: 5.23e-1

DP
type: SiteQuality
SIO_000300: 1.858852e6

QD
type: SiteQuality
SIO_000300: 1.196e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13098
bin: 6.75e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65854
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.247e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 1.437e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.032e1

VQSLOD
type: SiteQuality
SIO_000300: -4.052e-1

DP
type: SiteQuality
SIO_000300: 1.855931e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.112e0

GenotypeQuality
all individuals: 4222
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31922
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1006
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65858
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.397e0

DP
type: SiteQuality
SIO_000300: 1.855988e6

MQ
type: SiteQuality
SIO_000300: 5.737e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

FS
type: SiteQuality
SIO_000300: 5.382e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

QD
type: SiteQuality
SIO_000300: 7.46e0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4222
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 31923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65862
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.952743604764694e-4
allele num: 10242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.773e1

DP
type: SiteQuality
SIO_000300: 1.856305e6

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.772e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.082e0

GenotypeQuality
all individuals: 31943
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 10
bin: 1.25e1
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GenotypeQuality
all individuals: 2220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1006
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13106
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517542794706811e-5
allele num: 65896
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: 16486
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.172e1

DP
type: SiteQuality
SIO_000300: 1.856969e6

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.489e0

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 105
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4206
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31901
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033704456511847e-5
allele num: 65926
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: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 3.693e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.27e1

DP
type: SiteQuality
SIO_000300: 1.857151e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2218
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4205
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
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: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.666e0