11-62530077-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530077
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530077
    reference: chr 11
allele count: 4
allele frequency: 3.810975609756098e-4
allele num: 10496
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.186C>T
  hgvsp: ENST00000525455.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-262C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-262C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.174C>T
  hgvsp: ENST00000531996.1:c.174C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*697C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-262C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-262C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13202
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12047
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro58Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

11-62530096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530096
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530096
    reference: chr 11
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-243C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*716C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-243C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-243C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*10C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-243C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17977
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3375
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

11-62530097-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530097
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530097
    reference: chr 11
allele count: 33
allele frequency: 3.185943232284225e-3
allele num: 10358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-242C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-242C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-242C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*717C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*11C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-242C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18269
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 332
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3267
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 187
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genotype quality: GenotypeQuality
  all individuals: 16484
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

11-62530291-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530291
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530291
    reference: chr 11
allele count: 10
allele frequency: 8.807468733485996e-5
allele num: 113540
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-48G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*205G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-48G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-48G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-48G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*911G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.66G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-48G>C
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6068
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3894
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1909
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4865
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

11-62530302-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530302
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530302
    reference: chr 11
allele count: 461
allele frequency: 4.056313242410911e-3
allele num: 113650
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*216A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*922A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-37A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.77A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-37A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-37A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-37A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-37A>G
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 5.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 4.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 3236
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 12232
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12101
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8677
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 8.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 9.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3509
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 5
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

11-62530305-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530305
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530305
    reference: chr 11
allele count: 1
allele frequency: 8.793527963418924e-6
allele num: 113720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-34C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-34C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-34C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.80C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*219C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-34C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*925C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-34C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3164
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-62530306-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530306
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530306
    reference: chr 11
allele count: 1
allele frequency: 8.788736355486809e-6
allele num: 113782
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-33A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*926A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-33A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-33A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*220A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-33A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.81A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-33A>C
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

11-62530308-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530308
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530308
    reference: chr 11
allele count: 1
allele frequency: 8.782407082133071e-6
allele num: 113864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-31A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*928A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-31A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-31A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-31A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.83A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*222A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-31A>T
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12339
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4323
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

11-62530309-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530309
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530309
    reference: chr 11
allele count: 2
allele frequency: 1.755864587722995e-5
allele num: 113904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.84G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*929G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*223G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-30G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

11-62530310-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530310
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530310
    reference: chr 11
allele count: 1
allele frequency: 8.776240960471811e-6
allele num: 113944
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*930T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-29T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-29T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.85T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-29T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*224T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-29T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-29T>C
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8722
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12352
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-62530315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530315
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530315
    reference: chr 11
allele count: 2
allele frequency: 1.752234098475556e-5
allele num: 114140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-24T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*229T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-24T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-24T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-24T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-24T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.90T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*935T>C
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12361
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6249
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12307
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/11-62530316-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530316
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530316
    reference: chr 11
allele count: 2
allele frequency: 1.752111294109402e-5
allele num: 114148
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-23C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*230C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*936C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-23C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.91C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-23C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-23C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-23C>A
  variant of: http://identifiers.org/hgnc/9194
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6252
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-62530333-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530333
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530333
    reference: chr 11
allele count: 1
allele frequency: 8.664309974353643e-6
allele num: 115416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*129-6T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*277-6T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-187-6T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.269-6T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*953T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.123-6T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*247T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.108T>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2777
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4883
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18719
  bin: 9.75e1
  variant carriers: 1
hgvs: c.123-6T>C
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

11-62530348-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530348
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530348
    reference: chr 11
allele count: 1
allele frequency: 8.538688798948034e-6
allele num: 117114
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.123T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+10T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.278T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+10T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.132T>C
  hgvsp: ENST00000301788.7:c.132T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*286T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*138T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-178T>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4888
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe44Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

11-62530356-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530356
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530356
    reference: chr 11
allele count: 1
allele frequency: 8.471704506946798e-6
allele num: 118040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+18C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+18C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.140C>G
  hgvsp: ENSP00000301788.7:p.Ala47Gly
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*294C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-170C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.286C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.131C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*146C>G
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala47Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

11-62530357-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530357
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530357
    reference: chr 11
allele count: 2
allele frequency: 1.691331923890063e-5
allele num: 118250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.132T>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*147T>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*295T>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+19T>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.141T>A
  hgvsp: ENST00000301788.7:c.141T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+19T>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.287T>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-169T>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12202
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6391
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala47Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

11-62530374-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530374
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530374
    reference: chr 11
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.304A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*312A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-152A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+36A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.149A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+36A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*164A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.158A>G
  hgvsp: ENSP00000301788.7:p.Asn53Ser
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4327
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn53Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

11-62530393-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530393
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530393
    reference: chr 11
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.168C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*331C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+55C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-133C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.177C>G
  hgvsp: ENSP00000301788.7:p.Ile59Met
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+55C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*183C>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.323C>G
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile59Met
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

11-62530396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530396
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530396
    reference: chr 11
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.326G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+58G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+58G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.171G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*186G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.180G>A
  hgvsp: ENST00000301788.7:c.180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-130G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*334G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6080
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln60Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

11-62530402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530402
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530402
    reference: chr 11
allele count: 57
allele frequency: 4.708097928436911e-4
allele num: 121068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*192C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.177C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*340C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+64C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.186C>T
  hgvsp: ENST00000301788.7:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.332C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-124C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+64C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12308
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13447
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly62Gly
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

11-62530403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530403
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530403
    reference: chr 11
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*193C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+65C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.178C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.187C>T
  hgvsp: ENSP00000301788.7:p.Arg63Ter
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*341C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.333C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+65C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-123C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg63Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS

http://identifiers.org/exac.variant/11-62530408-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530408
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530408
    reference: chr 11
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+70C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-118C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.183C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.192C>A
  hgvsp: ENST00000301788.7:c.192C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*198C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+70C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.338C>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*346C>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7192
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly64Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

11-62530426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530426
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530426
    reference: chr 11
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.201T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-100T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*364T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.210T>C
  hgvsp: ENST00000301788.7:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+88T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*216T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+88T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.356T>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3204
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val70Val
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

11-62530432-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530432
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530432
    reference: chr 11
allele count: 2
allele frequency: 1.651473114017704e-5
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*222C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.362C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-94C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*370C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+94C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+94C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.216C>T
  hgvsp: ENST00000301788.7:c.216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.207C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13523
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3203
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr72Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

11-62530435-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530435
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530435
    reference: chr 11
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+97G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*373G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.219G>T
  hgvsp: ENSP00000301788.7:p.Lys73Asn
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*225G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.365G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+97G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-91G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.210G>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6583
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys73Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

11-62530436-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530436
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530436
    reference: chr 11
allele count: 1
allele frequency: 8.259957378619926e-6
allele num: 121066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-90G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+98G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*226G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.366G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.211G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*374G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.220G>T
  hgvsp: ENSP00000301788.7:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+98G>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala74Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-62530448-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530448
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530448
    reference: chr 11
allele count: 1
allele frequency: 8.272667107875579e-6
allele num: 120880
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.232C>T
  hgvsp: ENSP00000301788.7:p.Arg78Trp
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+110C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-78C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+110C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*386C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*238C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.378C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.223C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg78Trp
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

11-62530451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530451
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530451
    reference: chr 11
allele count: 1
allele frequency: 8.280202036929701e-6
allele num: 120770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+113C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+113C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.235C>T
  hgvsp: ENSP00000301788.7:p.Pro79Ser
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-75C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.226C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*389C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.381C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8735
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18698
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro79Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

11-62530468-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530468
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530468
    reference: chr 11
allele count: 1
allele frequency: 8.376612497905846e-6
allele num: 119380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.398C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.252C>T
  hgvsp: ENST00000301788.7:c.252C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-58C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*258C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+130C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+130C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*406C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.243C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val84Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

11-62530469-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530469
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530469
    reference: chr 11
allele count: 2
allele frequency: 1.678612794386719e-5
allele num: 119146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+131G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.253G>A
  hgvsp: ENSP00000301788.7:p.Val85Met
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.399G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*259G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-57G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*407G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.244G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+131G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Val85Met
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

11-62530480-TGTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530480
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530477
    reference: chr 11
allele count: 1
allele frequency: 8.463244130740195e-6
allele num: 118158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+143_*252+145delGTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*419_*421delGTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*271_*273delGTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.265_267delGTC
  hgvsp: ENSP00000301788.7:p.Val89del
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+143_*958+145delGTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-45_-43delGTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.256_258delGTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.411_413delGTC
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4322
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val89del
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: TGTC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

11-62530480-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530480
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530480
    reference: chr 11
allele count: 1
allele frequency: 8.463244130740195e-6
allele num: 118158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+142T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*418T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*270T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.410T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.255T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-46T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.264T>C
  hgvsp: ENST00000301788.7:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+142T>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1880
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12191
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13428
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3532
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val88Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

11-62530481-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530481
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530481
    reference: chr 11
allele count: 1
allele frequency: 8.484786777308286e-6
allele num: 117858
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*271G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.265G>C
  hgvsp: ENSP00000301788.7:p.Val89Leu
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*419G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.411G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+143G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.256G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-45G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+143G>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6074
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12648
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val89Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS

11-62530483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530483
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530483
    reference: chr 11
allele count: 1
allele frequency: 8.490550017830155e-6
allele num: 117778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.413C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*421C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+145C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+145C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.267C>T
  hgvsp: ENST00000301788.7:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.258C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*273C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12651
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val89Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

11-62530487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530487
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530487
    reference: chr 11
allele count: 1
allele frequency: 8.513536523071684e-6
allele num: 117460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*425C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-39C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+149C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.417C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*277C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+149C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.271C>T
  hgvsp: ENSP00000301788.7:p.Gln91Ter
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.262C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln91Ter
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-62530489-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530489
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530489
    reference: chr 11
allele count: 1
allele frequency: 8.526893823118114e-6
allele num: 117276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.273G>A
  hgvsp: ENST00000301788.7:c.273G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.419G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.264G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*279G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+151G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*427G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+151G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6261
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4868
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln91Gln
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

11-62530490-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530490
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530490
    reference: chr 11
allele count: 1
allele frequency: 8.526457597926366e-6
allele num: 117282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.420G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*280G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.265G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-36G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+152G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*428G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.274G>C
  hgvsp: ENSP00000301788.7:p.Val92Leu
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+152G>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6070
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val92Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD

11-62530501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530501
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530501
    reference: chr 11
allele count: 1
allele frequency: 8.587376556462001e-6
allele num: 116450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+3G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+3G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+3G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+163G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+3G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+3G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+3G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+163G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18681
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3120
  bin: 7.25e1
  variant carriers: 0
hgvs: c.282+3G>A
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-62530509-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530509
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530509
    reference: chr 11
allele count: 2
allele frequency: 1.727056060239715e-5
allele num: 115804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+11A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+11A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+171A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+11A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+11A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+11A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+11A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+171A>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18676
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6134
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

11-62530523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530523
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530523
    reference: chr 11
allele count: 1
allele frequency: 8.720524626761546e-6
allele num: 114672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+185G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+185G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+25G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11786
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18661
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

11-62530525-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530525
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530525
    reference: chr 11
allele count: 5
allele frequency: 4.365592148919079e-5
allele num: 114532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+27G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+27G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+187G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+27G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+187G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+27G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+27G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+27G>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

11-62530525-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530525
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530525
    reference: chr 11
allele count: 1
allele frequency: 8.731184297838158e-6
allele num: 114532
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+27G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+27G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+27G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+27G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+187G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+187G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+27G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+27G>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

11-62530527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530527
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530527
    reference: chr 11
allele count: 2
allele frequency: 1.748832654203319e-5
allele num: 114362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+189G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+189G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+29G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6030
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11629
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3863
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

11-62530528-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530528
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530528
    reference: chr 11
allele count: 3
allele frequency: 2.628028803195683e-5
allele num: 114154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+190G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+30G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+190G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1113
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11484
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6026
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10939
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

11-62530531-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530531
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530529
    reference: chr 11
allele count: 1
allele frequency: 8.767776667192733e-6
allele num: 114054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+198_*252+199delTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+38_*436+39delTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+198_*958+199delTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+38_273+39delTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+38_428+39delTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+38_-28+39delTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+38_282+39delTC
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+38_*288+39delTC
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3612
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11320
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18639
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: GTC
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

11-62530535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530535
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530535
    reference: chr 11
allele count: 1
allele frequency: 8.800028160090112e-6
allele num: 113636
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+37C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+197C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+197C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+37C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+37C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+37C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+37C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+37C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

11-62530537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530537
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530537
    reference: chr 11
allele count: 6
allele frequency: 5.284760512269452e-5
allele num: 113534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+39C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+199C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+39C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+199C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+39C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+39C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+39C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+39C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18626
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4650
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10177
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

11-62530537-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530537
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530536
    reference: chr 11
allele count: 1
allele frequency: 8.807934187115753e-6
allele num: 113534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+41delG
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+41delG
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+41delG
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+201delG
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+41delG
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+201delG
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+41delG
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+41delG
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3844
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8465
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2914
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: CG
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

11-62530548-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530548
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530548
    reference: chr 11
allele count: 1
allele frequency: 8.843766029325928e-6
allele num: 113074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+50G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+210G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+50G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+50G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+50G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+50G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+210G>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+50G>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5913
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18600
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4518
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

11-62530549-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530549
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530549
    reference: chr 11
allele count: 1
allele frequency: 8.850810734263259e-6
allele num: 112984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+211G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+211G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+51G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+51G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+51G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+51G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+51G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+51G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

11-62530549-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62530549
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62530549
    reference: chr 11
allele count: 1
allele frequency: 8.850810734263259e-6
allele num: 112984
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-28+51G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*252+211G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*958+211G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*436+51G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.428+51G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.273+51G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.282+51G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*288+51G>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8288
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2009
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5169
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18600
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

11-62532608-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532608
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532608
    reference: chr 11
allele count: 11
allele frequency: 9.082052213543817e-5
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-46C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-46C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-46C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-46C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-46C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-46C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-46C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-46C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4224
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3676
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51784
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

11-62532609-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532609
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532609
    reference: chr 11
allele count: 6
allele frequency: 4.951312097705892e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-45G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-45G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-45G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-45G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-45G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-45G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-45G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-45G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

11-62532611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532611
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532611
    reference: chr 11
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-43G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-43G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-43G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-43G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-43G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-43G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-43G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-43G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/11-62532616-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532616
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532616
    reference: chr 11
allele count: 8
allele frequency: 6.598373500932021e-5
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-38A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-38A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-38A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-38A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-38A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-38A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-38A>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-38A>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

11-62532616-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532616
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532616
    reference: chr 11
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-38A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-38A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-38A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-38A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-38A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-38A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-38A>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-38A>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

11-62532618-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532618
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532618
    reference: chr 11
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-36C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-36C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-36C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-36C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-36C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-36C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-36C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-36C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4685
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

11-62532624-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532624
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532624
    reference: chr 11
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-30C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-30C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-30C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-30C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-30C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-30C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-30C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-30C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2413
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

11-62532625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532625
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532625
    reference: chr 11
allele count: 4
allele frequency: 3.298588204248581e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-29G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-29G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

11-62532626-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532626
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532626
    reference: chr 11
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-28G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-28G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-28G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-28G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-28G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-28G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-28G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-28G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5795
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.75e1
  variant carriers: 0
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: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

11-62532628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532628
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532628
    reference: chr 11
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-26C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-26C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-26C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-26C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-26C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-26C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-26C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-26C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1749
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

11-62532629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532629
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532629
    reference: chr 11
allele count: 6
allele frequency: 4.945924558164073e-5
allele num: 121312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-25G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-25G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5123
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4683
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51889
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

11-62532641-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532641
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532642
    reference: chr 11
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-5dupT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-5dupT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-5dupT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-5dupT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-5dupT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-5dupT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-5dupT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-5dupT
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-62532641-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532641
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532640
    reference: chr 11
allele count: 6
allele frequency: 4.945679948564928e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-5delT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-5delT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-5delT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-5delT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-5delT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-5delT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-5delT
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-5delT
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3675
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5806
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: AT
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

11-62532645-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532645
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532645
    reference: chr 11
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-9T>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-9T>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-9T>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-9T>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-9T>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-9T>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-9T>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-9T>G
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5807
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51945
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP

11-62532649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532649
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532649
    reference: chr 11
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-5T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-5T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-5T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-5T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-5T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-5T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-5T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-5T>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5932
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2509
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: c.283-5T>C
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

11-62532650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532650
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532650
    reference: chr 11
allele count: 3
allele frequency: 2.47137325974133e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-4C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-4C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-4C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-4C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-4C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-4C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-4C>T
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-4C>T
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5135
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
hgvs: c.283-4C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

11-62532653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532653
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532653
    reference: chr 11
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.274-1G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*959-1G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.429-1G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*253-1G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.283-1G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*289-1G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*437-1G>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.-27-1G>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 6.25e1
  variant carriers: 0
hgvs: c.283-1G>C
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

11-62532693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532693
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532693
    reference: chr 11
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.322A>G
  hgvsp: ENSP00000301788.7:p.Ile108Val
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*292A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*998A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.313A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.13A>G
  hgvsp: ENSP00000432198.1:p.Ile5Val
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*476A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*328A>G
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.468A>G
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile108Val
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

11-62532704-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532704
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532704
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.324T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*339T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.24T>C
  hgvsp: ENST00000533442.1:c.24T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.479T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*1009T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.333T>C
  hgvsp: ENST00000301788.7:c.333T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*487T>C
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*303T>C
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2459
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
hgvs: c.333T>C
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

11-62532705-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 62532705
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 62532705
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000527435
  gene symbol: POLR2G
  hgvsc: ENST00000527435.1:n.479+1G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl transcript: ENST00000526368
  gene symbol: POLR2G
  hgvsc: ENST00000526368.1:n.324+1G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000431624
  ensembl transcript: ENST00000524819
  gene symbol: POLR2G
  hgvsc: ENST00000524819.1:c.*487+1G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433877
  ensembl transcript: ENST00000531944
  gene symbol: POLR2G
  hgvsc: ENST00000531944.1:c.*1009+1G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000435669
  ensembl transcript: ENST00000531996
  gene symbol: POLR2G
  hgvsc: ENST00000531996.1:c.*339+1G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000301788
  ensembl transcript: ENST00000301788
  gene symbol: POLR2G
  hgvsc: ENST00000301788.7:c.333+1G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000432198
  ensembl transcript: ENST00000533442
  gene symbol: POLR2G
  hgvsc: ENST00000533442.1:c.24+1G>A
  variant of: http://identifiers.org/hgnc/9194
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168002
  ensembl protein: ENSP00000433529
  ensembl transcript: ENST00000525455
  gene symbol: POLR2G
  hgvsc: ENST00000525455.1:c.*303+1G>A
  variant of: http://identifiers.org/hgnc/9194
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5929
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4684
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 8.75e1
  variant carriers: 0
hgvs: c.333+1G>A
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 4327
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 142
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 36
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 1.694915254237288e-2
allele num: 236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.306e1

VQSLOD
type: SiteQuality
SIO_000300: 6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.149999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.5756e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

FS
type: SiteQuality
SIO_000300: 1.0175e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.56e-1

GenotypeQuality
all individuals: 292
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 282
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.739715781600598e-4
allele num: 2674
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.355e0

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -7.7e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.63876e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2668
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

South Asian
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allele count: 33
allele frequency: 4.725085910652921e-3
allele num: 6984
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MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQ
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BaseQRankSum
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
SIO_000300: -1.035e-1

ClippingRankSum
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SIO_000300: 3.23e-1

DP
type: SiteQuality
SIO_000300: 1.64021e5

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64696
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

African
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allele count: 10
allele frequency: 9.721952167995333e-4
allele num: 10286
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11008
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: -6.830000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 8.35e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.05e-1

DP
type: SiteQuality
SIO_000300: 2.200692e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 455

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

European (Non-Finnish)
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allele count: 28
allele frequency: 4.325927757006458e-4
allele num: 64726
num of homozygotes: 0

Latino
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allele count: 28
allele frequency: 2.432667245873154e-3
allele num: 11510
num of homozygotes: 0

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

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

African
type: Population
allele count: 403
allele frequency: 3.91566265060241e-2
allele num: 10292
num of homozygotes: 5

Other
type: Population
allele count: 2
allele frequency: 2.463054187192118e-3
allele num: 812
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.210905e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.539e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11510
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544830995489093e-5
allele num: 64732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.394e0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.745e1

DP
type: SiteQuality
SIO_000300: 2.194506e6

FS
type: SiteQuality
SIO_000300: 1.664e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.544592382070372e-5
allele num: 64742
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Other
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

African
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South Asian
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
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DP
type: SiteQuality
SIO_000300: 2.195571e6

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

European (Non-Finnish)
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European (Finnish)
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Latino
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allele num: 11510
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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MQ
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QD
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

East Asian
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South Asian
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Other
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European (Non-Finnish)
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African
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: -2.366e0

BaseQRankSum
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FS
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MQ
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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: 2
allele frequency: 3.082994203970897e-5
allele num: 64872
num of homozygotes: 0

African
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Other
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South Asian
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FS
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ClippingRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64870
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Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.753155680224404e-4
allele num: 11408
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.535202186127913e-5
allele num: 65138
num of homozygotes: 0

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

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

InbreedingCoeff
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QD
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65534
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Latino
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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FS
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ClippingRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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SIO_000300: 5.957e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11552
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.520034048762692e-5
allele num: 65788
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65840
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European (Finnish)
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Other
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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Other
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 66340
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Finnish)
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East Asian
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African
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South Asian
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European (Non-Finnish)
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QD
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele frequency: 5.105258416168653e-4
allele num: 66598
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African
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Other
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allele frequency: 2.212389380530973e-3
allele num: 904
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66598
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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East Asian
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South Asian
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QD
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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FS
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SIO_000300: 7.022e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
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East Asian
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.501366243281386e-5
allele num: 66606
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African
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Other
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DP
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 1.501456412720339e-5
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InbreedingCoeff
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ClippingRankSum
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QD
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DP
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66588
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Latino
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Other
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MQ
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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QD
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VQSLOD
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DP
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BaseQRankSum
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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MQRankSum
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DP
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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MQRankSum
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FS
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QD
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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Other
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Latino
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East Asian
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South Asian
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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SIO_000300: 2.265283e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.099e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

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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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6414
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.613756613756614e-5
allele num: 15120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.371e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.338e-1

DP
type: SiteQuality
SIO_000300: 2.244821e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.862e1

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.686279753944904e-5
allele num: 14956
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51267622678042e-5
allele num: 66108
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: 10376
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

DP
type: SiteQuality
SIO_000300: 2.240175e6

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-5
allele num: 65840
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14280
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.372e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 2.22365e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 4322
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65840
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.52e-1

DP
type: SiteQuality
SIO_000300: 2.22365e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.372e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65748
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14084
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.626e1

QD
type: SiteQuality
SIO_000300: 8.720000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: -3.215e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.406e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 2.219365e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14028
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65728
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.017e1

VQSLOD
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.232e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.219023e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13780
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.45e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

FS
type: SiteQuality
SIO_000300: 1.392e0

VQSLOD
type: SiteQuality
SIO_000300: -9.639e-1

MQ
type: SiteQuality
SIO_000300: 5.738e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.215302e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524483200195134e-5
allele num: 65596
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.211226e6

VQSLOD
type: SiteQuality
SIO_000300: -1.207e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 7.933e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3131
bin: 7.25e1
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
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13686
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524483200195134e-5
allele num: 65596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.211076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.242e1

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4840
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.676795045480937e-5
allele num: 10334
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65426
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.684e1

VQSLOD
type: SiteQuality
SIO_000300: -3.203e-1

FS
type: SiteQuality
SIO_000300: 2.057e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.359e1

DP
type: SiteQuality
SIO_000300: 2.202067e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.468e0

GenotypeQuality
all individuals: 3332
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12652
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.065040152025992e-5
allele num: 65252
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.061e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.4e0

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 2.194499e6

QD
type: SiteQuality
SIO_000300: 1.482e1

GenotypeQuality
all individuals: 741
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3514
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.710623422023694e-5
allele num: 10298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64962
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.388e1

FS
type: SiteQuality
SIO_000300: 5.825e0

VQSLOD
type: SiteQuality
SIO_000300: -2.215e0

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.624e0

MQ
type: SiteQuality
SIO_000300: 5.832e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

DP
type: SiteQuality
SIO_000300: 2.178552e6

GenotypeQuality
all individuals: 3019
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
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variant carriers: 0

GenotypeQuality
all individuals: 5869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18654
bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11434
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64928
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.582650894752805e-4
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11806
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.818e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

DP
type: SiteQuality
SIO_000300: 2.175822e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

GenotypeQuality
all individuals: 4266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2222
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3251
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11434
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
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variant carriers: 0

GenotypeQuality
all individuals: 4737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18654
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64928
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11806
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.199040767386091e-3
allele num: 834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.818e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.328e1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

DP
type: SiteQuality
SIO_000300: 2.175822e6

GenotypeQuality
all individuals: 628
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4727
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18646
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4257
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.083089255433945e-5
allele num: 64870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.1e-1

DP
type: SiteQuality
SIO_000300: 2.17191e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.378e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 5723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 884
bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 3.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 8.25e1
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GenotypeQuality
all individuals: 18641
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

African
type: Population
allele count: 3
allele frequency: 2.9165856503986e-4
allele num: 10286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 4.782e0

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 2.166956e6

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.431e1

GenotypeQuality
all individuals: 908
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 11030
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.54320987654321e-5
allele num: 64800
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.015e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.021e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

FS
type: SiteQuality
SIO_000300: 3.038e0

DP
type: SiteQuality
SIO_000300: 2.162562e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4678
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2212
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GenotypeQuality
all individuals: 3491
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GenotypeQuality
all individuals: 2875
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 709
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GenotypeQuality
all individuals: 2957
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GenotypeQuality
all individuals: 4233
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.727526618956188e-5
allele num: 11458
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64678
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.984e0

MQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 2.14765e6

QD
type: SiteQuality
SIO_000300: 1.657e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.35e-1

GenotypeQuality
all individuals: 953
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 320
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2196
bin: 8.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.476275738585497e-4
allele num: 11170
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547221190741428e-5
allele num: 64632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.145828e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

FS
type: SiteQuality
SIO_000300: 4.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

QD
type: SiteQuality
SIO_000300: 1.141e1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64632
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.961e1

QD
type: SiteQuality
SIO_000300: 1.141e1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 4.51e0

DP
type: SiteQuality
SIO_000300: 2.145828e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4914
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64516
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.75609756097561e-5
allele num: 10250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
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: 8578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.47e-2

DP
type: SiteQuality
SIO_000300: 2.116876e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.741e1

GenotypeQuality
all individuals: 2158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1980
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variant carriers: 0

GenotypeQuality
all individuals: 4138
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551109042965721e-5
allele num: 64470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.114712e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 1.102e0

QD
type: SiteQuality
SIO_000300: 1.022e1

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2578
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.199632014719411e-5
allele num: 10870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64470
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.198e0

FS
type: SiteQuality
SIO_000300: 1.102e0

DP
type: SiteQuality
SIO_000300: 2.114712e6

QD
type: SiteQuality
SIO_000300: 1.022e1

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 917
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GenotypeQuality
all individuals: 269
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001921229586936e-5
allele num: 66624
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 8.662175168431184e-4
allele num: 10390
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: -4.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

FS
type: SiteQuality
SIO_000300: 3.029e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.843e0

DP
type: SiteQuality
SIO_000300: 3.8059e6

MQ
type: SiteQuality
SIO_000300: 5.835e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.5036768016328e-5
allele num: 66634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

DP
type: SiteQuality
SIO_000300: 3.80795e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 1.604e0

QD
type: SiteQuality
SIO_000300: 1.432e1

VQSLOD
type: SiteQuality
SIO_000300: -9.062e-1

MQ
type: SiteQuality
SIO_000300: 5.685e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 3.809365e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.82e0

QD
type: SiteQuality
SIO_000300: 1.582e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 180
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 170
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GenotypeQuality
all individuals: 39
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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FS
type: SiteQuality
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MQ
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SIO_000300: 5.95e1

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

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

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 num: 66654
num of homozygotes: 0

African
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Other
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East Asian
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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QD
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VQSLOD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66652
num of homozygotes: 0

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

Other
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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ClippingRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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Latino
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QD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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allele num: 66664
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Other
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South Asian
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East Asian
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allele num: 8652
num of homozygotes: 0

Latino
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num of homozygotes: 0

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