20-9433971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9433971
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9433971
    reference: chr 20
allele count: 1
allele frequency: 8.472278704080249e-6
allele num: 118032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2845-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2881-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2845-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2622-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2572-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2860-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2536-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2881-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2845-23A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2845-23A>G
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

20-9433982-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9433982
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9433982
    reference: chr 20
allele count: 1
allele frequency: 8.414391976035812e-6
allele num: 118844
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2860-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2845-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2845-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2622-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2881-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2845-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2881-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2845-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2536-12C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2572-12C>T
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD

20-9433985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9433985
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9433985
    reference: chr 20
allele count: 4
allele frequency: 3.35795836131632e-5
allele num: 119120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2845-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2572-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2881-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2845-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2845-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2860-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2622-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2536-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2881-9C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2845-9C>T
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26117
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

20-9434008-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434008
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434008
    reference: chr 20
allele count: 4
allele frequency: 3.313727114572115e-5
allele num: 120710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2636G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2859G>A
  hgvsp: ENSP00000334105.3:p.Met953Ile
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2859G>A
  hgvsp: ENSP00000367754.1:p.Met953Ile
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2859G>A
  hgvsp: ENSP00000367762.2:p.Met953Ile
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2895G>A
  hgvsp: ENSP00000367734.3:p.Met965Ile
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2859G>A
  hgvsp: ENSP00000278655.4:p.Met953Ile
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2586G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2874G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2550G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2895G>A
  hgvsp: ENSP00000390616.2:p.Met965Ile
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met953Ile
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

20-9434021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434021
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434021
    reference: chr 20
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2599T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2872T>C
  hgvsp: ENSP00000278655.4:p.Cys958Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2887T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2649T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2908T>C
  hgvsp: ENSP00000367734.3:p.Cys970Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2908T>C
  hgvsp: ENSP00000390616.2:p.Cys970Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2872T>C
  hgvsp: ENSP00000367762.2:p.Cys958Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2872T>C
  hgvsp: ENSP00000367754.1:p.Cys958Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2872T>C
  hgvsp: ENSP00000334105.3:p.Cys958Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2563T>C
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys958Arg
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-9434025-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434025
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434025
    reference: chr 20
allele count: 1
allele frequency: 8.263643275047103e-6
allele num: 121012
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2876C>G
  hgvsp: ENSP00000278655.4:p.Thr959Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2876C>G
  hgvsp: ENSP00000367754.1:p.Thr959Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2603C>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2912C>G
  hgvsp: ENSP00000367734.3:p.Thr971Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2567C>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2912C>G
  hgvsp: ENSP00000390616.2:p.Thr971Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2876C>G
  hgvsp: ENSP00000367762.2:p.Thr959Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2876C>G
  hgvsp: ENSP00000334105.3:p.Thr959Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2891C>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2653C>G
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr959Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

20-9434025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434025
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434025
    reference: chr 20
allele count: 2
allele frequency: 1.652728655009421e-5
allele num: 121012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2567C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2912C>T
  hgvsp: ENSP00000367734.3:p.Thr971Met
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2876C>T
  hgvsp: ENSP00000367754.1:p.Thr959Met
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2876C>T
  hgvsp: ENSP00000367762.2:p.Thr959Met
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2603C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2876C>T
  hgvsp: ENSP00000334105.3:p.Thr959Met
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2876C>T
  hgvsp: ENSP00000278655.4:p.Thr959Met
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2653C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2891C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2912C>T
  hgvsp: ENSP00000390616.2:p.Thr971Met
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr959Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP

20-9434026-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434026
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434026
    reference: chr 20
allele count: 5
allele frequency: 4.131685066437496e-5
allele num: 121016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2877G>A
  hgvsp: ENST00000378493.1:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2604G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2913G>A
  hgvsp: ENST00000378473.3:c.2913G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2877G>A
  hgvsp: ENST00000334005.3:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2568G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2892G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2877G>A
  hgvsp: ENST00000278655.4:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2913G>A
  hgvsp: ENST00000414679.2:c.2913G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2877G>A
  hgvsp: ENST00000378501.2:c.2877G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2654G>A
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr959Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

20-9434031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434031
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434031
    reference: chr 20
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2573T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2659T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2882T>C
  hgvsp: ENSP00000334105.3:p.Val961Ala
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2918T>C
  hgvsp: ENSP00000390616.2:p.Val973Ala
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2882T>C
  hgvsp: ENSP00000367754.1:p.Val961Ala
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2882T>C
  hgvsp: ENSP00000367762.2:p.Val961Ala
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2918T>C
  hgvsp: ENSP00000367734.3:p.Val973Ala
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2882T>C
  hgvsp: ENSP00000278655.4:p.Val961Ala
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2897T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2609T>C
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val961Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

20-9434047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434047
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434047
    reference: chr 20
allele count: 2
allele frequency: 1.65188231990353e-5
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2898A>G
  hgvsp: ENST00000278655.4:c.2898A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2625A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2675A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2898A>G
  hgvsp: ENST00000378493.1:c.2898A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2898A>G
  hgvsp: ENST00000334005.3:c.2898A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2934A>G
  hgvsp: ENST00000378473.3:c.2934A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2589A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2934A>G
  hgvsp: ENST00000414679.2:c.2934A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2898A>G
  hgvsp: ENST00000378501.2:c.2898A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2913A>G
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala966Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

20-9434049-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434049
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434049
    reference: chr 20
allele count: 61
allele frequency: 5.038823723773336e-4
allele num: 121060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2627A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2936A>G
  hgvsp: ENSP00000390616.2:p.Gln979Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2900A>G
  hgvsp: ENSP00000367754.1:p.Gln967Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2900A>G
  hgvsp: ENSP00000367762.2:p.Gln967Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2591A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2677A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2915A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2936A>G
  hgvsp: ENSP00000367734.3:p.Gln979Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2900A>G
  hgvsp: ENSP00000278655.4:p.Gln967Arg
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2900A>G
  hgvsp: ENSP00000334105.3:p.Gln967Arg
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27023
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln967Arg
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

20-9434050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434050
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434050
    reference: chr 20
allele count: 2
allele frequency: 1.652127940787734e-5
allele num: 121056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2678G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2901G>A
  hgvsp: ENST00000378493.1:c.2901G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2937G>A
  hgvsp: ENST00000378473.3:c.2937G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2901G>A
  hgvsp: ENST00000334005.3:c.2901G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2901G>A
  hgvsp: ENST00000378501.2:c.2901G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2937G>A
  hgvsp: ENST00000414679.2:c.2937G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2916G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2901G>A
  hgvsp: ENST00000278655.4:c.2901G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2592G>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2628G>A
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln967Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

20-9434051-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434051
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434051
    reference: chr 20
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2938T>C
  hgvsp: ENSP00000367734.3:p.Tyr980His
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2902T>C
  hgvsp: ENSP00000367762.2:p.Tyr968His
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2679T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2902T>C
  hgvsp: ENSP00000367754.1:p.Tyr968His
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2902T>C
  hgvsp: ENSP00000334105.3:p.Tyr968His
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2902T>C
  hgvsp: ENSP00000278655.4:p.Tyr968His
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2629T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2917T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2593T>C
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2938T>C
  hgvsp: ENSP00000390616.2:p.Tyr980His
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr968His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

20-9434052-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434052
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434052
    reference: chr 20
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2903A>T
  hgvsp: ENSP00000278655.4:p.Tyr968Phe
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2939A>T
  hgvsp: ENSP00000367734.3:p.Tyr980Phe
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2939A>T
  hgvsp: ENSP00000390616.2:p.Tyr980Phe
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2918A>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2680A>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2903A>T
  hgvsp: ENSP00000367762.2:p.Tyr968Phe
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2594A>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2903A>T
  hgvsp: ENSP00000367754.1:p.Tyr968Phe
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2903A>T
  hgvsp: ENSP00000334105.3:p.Tyr968Phe
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2630A>T
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27068
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr968Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

20-9434066-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434066
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434066
    reference: chr 20
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2953T>A
  hgvsp: ENSP00000390616.2:p.Ser985Thr
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2917T>A
  hgvsp: ENSP00000334105.3:p.Ser973Thr
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2694T>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2644T>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2917T>A
  hgvsp: ENSP00000278655.4:p.Ser973Thr
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2608T>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2917T>A
  hgvsp: ENSP00000367762.2:p.Ser973Thr
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2932T>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2917T>A
  hgvsp: ENSP00000367754.1:p.Ser973Thr
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2953T>A
  hgvsp: ENSP00000367734.3:p.Ser985Thr
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27069
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser973Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS

20-9434067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434067
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434067
    reference: chr 20
allele count: 2
allele frequency: 1.653548515113433e-5
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2918C>T
  hgvsp: ENSP00000334105.3:p.Ser973Leu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2918C>T
  hgvsp: ENSP00000367762.2:p.Ser973Leu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2918C>T
  hgvsp: ENSP00000278655.4:p.Ser973Leu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2695C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2954C>T
  hgvsp: ENSP00000367734.3:p.Ser985Leu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2645C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2954C>T
  hgvsp: ENSP00000390616.2:p.Ser985Leu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2918C>T
  hgvsp: ENSP00000367754.1:p.Ser973Leu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2609C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2933C>T
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser973Leu
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

20-9434071-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434071
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434071
    reference: chr 20
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2922T>G
  hgvsp: ENST00000278655.4:c.2922T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2922T>G
  hgvsp: ENST00000378501.2:c.2922T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2958T>G
  hgvsp: ENST00000378473.3:c.2958T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2922T>G
  hgvsp: ENST00000378493.1:c.2922T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2699T>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2958T>G
  hgvsp: ENST00000414679.2:c.2958T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2649T>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2613T>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2922T>G
  hgvsp: ENST00000334005.3:c.2922T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2937T>G
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr974Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

20-9434086-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434086
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434086
    reference: chr 20
allele count: 1
allele frequency: 8.307855908547122e-6
allele num: 120368
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2664A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2937A>G
  hgvsp: ENST00000378493.1:c.2937A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2628A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2714A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2937A>G
  hgvsp: ENST00000378501.2:c.2937A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2952A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2973A>G
  hgvsp: ENST00000414679.2:c.2973A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2973A>G
  hgvsp: ENST00000378473.3:c.2973A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2937A>G
  hgvsp: ENST00000334005.3:c.2937A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2937A>G
  hgvsp: ENST00000278655.4:c.2937A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17548
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu979Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-9434094-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434094
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434094
    reference: chr 20
allele count: 1
allele frequency: 8.375630266177531e-6
allele num: 119394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2945C>A
  hgvsp: ENSP00000334105.3:p.Ala982Glu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2636C>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2945C>A
  hgvsp: ENSP00000278655.4:p.Ala982Glu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2981C>A
  hgvsp: ENSP00000390616.2:p.Ala994Glu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2981C>A
  hgvsp: ENSP00000367734.3:p.Ala994Glu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2960C>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2722C>A
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2945C>A
  hgvsp: ENSP00000367762.2:p.Ala982Glu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2945C>A
  hgvsp: ENSP00000367754.1:p.Ala982Glu
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2672C>A
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala982Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum

20-9434097-TGAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434097
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434094
    reference: chr 20
allele count: 1
allele frequency: 8.410570404884859e-6
allele num: 118898
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2956_2958delAAG
  hgvsp: ENSP00000367754.1:p.Lys986del
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2956_2958delAAG
  hgvsp: ENSP00000278655.4:p.Lys986del
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2956_2958delAAG
  hgvsp: ENSP00000367762.2:p.Lys986del
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2733_2735delAAG
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2971_2973delAAG
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2683_2685delAAG
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2992_2994delAAG
  hgvsp: ENSP00000390616.2:p.Lys998del
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2956_2958delAAG
  hgvsp: ENSP00000334105.3:p.Lys986del
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2992_2994delAAG
  hgvsp: ENSP00000367734.3:p.Lys998del
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2647_2649delAAG
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys986del
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: TGAA
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

20-9434108-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434108
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434108
    reference: chr 20
allele count: 1
allele frequency: 8.682816705739342e-6
allele num: 115170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2995G>T
  hgvsp: ENSP00000367734.3:p.Gly999Trp
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2959G>T
  hgvsp: ENSP00000334105.3:p.Gly987Trp
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2959G>T
  hgvsp: ENSP00000367754.1:p.Gly987Trp
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2959G>T
  hgvsp: ENSP00000367762.2:p.Gly987Trp
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2974G>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2650G>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2959G>T
  hgvsp: ENSP00000278655.4:p.Gly987Trp
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2736G>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2995G>T
  hgvsp: ENSP00000390616.2:p.Gly999Trp
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2686G>T
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4587
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24402
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly987Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-6007215-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007215
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007215
    reference: chr 19
allele count: 1
allele frequency: 8.639308855291577e-6
allele num: 115750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4916C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1248-38G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1173-38G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1248-38G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.235-38G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2217
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

19-6007225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007225
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007225
    reference: chr 19
allele count: 1
allele frequency: 8.704280765280366e-6
allele num: 114886
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4906C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1248-48G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1248-48G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.235-48G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1173-48G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2616
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

19-6007229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007229
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007229
    reference: chr 19
allele count: 1
allele frequency: 8.730879374170566e-6
allele num: 114536
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1248-52G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.235-52G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1248-52G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1173-52G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4902C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5251
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7793
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3576
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

19-6007651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007651
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007651
    reference: chr 19
allele count: 1
allele frequency: 5.082333807684488e-5
allele num: 19676
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1247+50C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.234+50C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4480G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1172+50C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1247+50C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21643
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10881
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

19-6007657-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007657
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007657
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 19760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1172+44A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.234+44A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4474T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1247+44A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1247+44A>G
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
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: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33610
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23697
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8911
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/19-6007658-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007658
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007658
    reference: chr 19
allele count: 1
allele frequency: 5.068423720223011e-5
allele num: 19730
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1172+43T>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4473A>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1247+43T>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.234+43T>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1247+43T>G
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  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: 2310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33612
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23921
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8714
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1545
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

19-6007662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007662
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007662
    reference: chr 19
allele count: 12
allele frequency: 6.080259424402108e-4
allele num: 19736
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1247+39G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1172+39G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4469C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.234+39G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1247+39G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3485
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2522
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7831
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25079
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

20-9434112-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434112
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434112
    reference: chr 20
allele count: 1
allele frequency: 8.81849768073511e-6
allele num: 113398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2960+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2975+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2651+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2960+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2996+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2687+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2737+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2960+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2996+3A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2960+3A>G
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2960+3A>G
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP

20-9434113-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434113
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434113
    reference: chr 20
allele count: 9
allele frequency: 7.969538652262463e-5
allele num: 112930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2651+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2996+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2737+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2960+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2960+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2960+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2960+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2996+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2975+4A>G
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2687+4A>G
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7965
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11881
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2960+4A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum

20-9434116-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 9434116
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 9434116
    reference: chr 20
allele count: 11
allele frequency: 9.881067873953505e-5
allele num: 111324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000278655
  ensembl transcript: ENST00000278655
  gene symbol: PLCB4
  hgvsc: ENST00000278655.4:c.2960+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000464199
  gene symbol: PLCB4
  hgvsc: ENST00000464199.1:n.2737+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000492632
  gene symbol: PLCB4
  hgvsc: ENST00000492632.1:n.2975+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000334105
  ensembl transcript: ENST00000334005
  gene symbol: PLCB4
  hgvsc: ENST00000334005.3:c.2960+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000390616
  ensembl transcript: ENST00000414679
  gene symbol: PLCB4
  hgvsc: ENST00000414679.2:c.2996+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000482123
  gene symbol: PLCB4
  hgvsc: ENST00000482123.1:n.2687+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367762
  ensembl transcript: ENST00000378501
  gene symbol: PLCB4
  hgvsc: ENST00000378501.2:c.2960+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367754
  ensembl transcript: ENST00000378493
  gene symbol: PLCB4
  hgvsc: ENST00000378493.1:c.2960+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl transcript: ENST00000473151
  gene symbol: PLCB4
  hgvsc: ENST00000473151.1:n.2651+7C>T
  variant of: http://identifiers.org/hgnc/9059
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000101333
  ensembl protein: ENSP00000367734
  ensembl transcript: ENST00000378473
  gene symbol: PLCB4
  hgvsc: ENST00000378473.3:c.2996+7C>T
  variant of: http://identifiers.org/hgnc/9059
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21496
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7620
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10798
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2960+7C>T
num of homozygotes: 1
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-6007678-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007678
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007678
    reference: chr 19
allele count: 1
allele frequency: 4.995004995004995e-5
allele num: 20020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1247+23G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1172+23G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.234+23G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1247+23G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4453C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

19-6007683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007683
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007683
    reference: chr 19
allele count: 8
allele frequency: 3.972589134968716e-4
allele num: 20138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1247+18G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4448C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1247+18G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1172+18G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.234+18G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35691
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6792
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31672
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 1.25e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

19-6007692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007692
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007692
    reference: chr 19
allele count: 1
allele frequency: 4.910144358244132e-5
allele num: 20366
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4439G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.234+9C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1247+9C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1247+9C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1172+9C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  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: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7280
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

19-6007711-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007711
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007711
    reference: chr 19
allele count: 1
allele frequency: 4.813246053138236e-5
allele num: 20776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1237C>G
  hgvsp: ENSP00000352076.3:p.Leu413Val
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1237C>G
  hgvsp: ENSP00000306335.4:p.Leu413Val
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4420G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.224C>G
  hgvsp: ENSP00000466028.1:p.Leu76Val
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1162C>G
  hgvsp: ENSP00000467166.1:p.Leu388Val
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7722
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu413Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-6007723-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007723
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007723
    reference: chr 19
allele count: 1
allele frequency: 4.757373929590866e-5
allele num: 21020
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1225G>A
  hgvsp: ENSP00000306335.4:p.Gly409Ser
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4408C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1225G>A
  hgvsp: ENSP00000352076.3:p.Gly409Ser
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1150G>A
  hgvsp: ENSP00000467166.1:p.Gly384Ser
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.212G>A
  hgvsp: ENSP00000466028.1:p.Gly72Ser
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11300
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly409Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

19-6007724-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007724
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007724
    reference: chr 19
allele count: 166
allele frequency: 7.868044364394729e-3
allele num: 21098
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1224C>T
  hgvsp: ENST00000303657.5:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4407G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1224C>T
  hgvsp: ENST00000359161.3:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1149C>T
  hgvsp: ENST00000592546.1:c.1149C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.211C>T
  hgvsp: ENST00000589340.1:c.211C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 33140
  bin: 2.5e0
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11513
  bin: 7.5e0
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 7.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 8.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 2187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 1.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30996
  bin: 7.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 18
hgvs: p.Asp408Asp
num of homozygotes: 3
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

19-6007726-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007726
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007726
    reference: chr 19
allele count: 5
allele frequency: 2.369219105382866e-4
allele num: 21104
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4405C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.209G>C
  hgvsp: ENSP00000466028.1:p.Asp71His
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1147G>C
  hgvsp: ENSP00000467166.1:p.Asp383His
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1222G>C
  hgvsp: ENSP00000306335.4:p.Asp408His
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1222G>C
  hgvsp: ENSP00000352076.3:p.Asp408His
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33176
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
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: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31315
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp408His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-6007727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007727
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007727
    reference: chr 19
allele count: 1
allele frequency: 4.733951903048665e-5
allele num: 21124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1146C>T
  hgvsp: ENST00000592546.1:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4404G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1221C>T
  hgvsp: ENST00000303657.5:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1221C>T
  hgvsp: ENST00000359161.3:c.1221C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.208C>T
  hgvsp: ENST00000589340.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33133
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31145
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser407Ser
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: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

19-6007745-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007745
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007745
    reference: chr 19
allele count: 1
allele frequency: 4.667226733874731e-5
allele num: 21426
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.190C>T
  hgvsp: ENST00000589340.1:c.190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1203C>T
  hgvsp: ENST00000359161.3:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1128C>T
  hgvsp: ENST00000592546.1:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1203C>T
  hgvsp: ENST00000303657.5:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4386G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13336
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32012
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8209
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn401Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

19-6007756-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007756
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007756
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21542
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1117T>C
  hgvsp: ENSP00000467166.1:p.Ser373Pro
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1192T>C
  hgvsp: ENSP00000352076.3:p.Ser398Pro
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4375A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.179T>C
  hgvsp: ENSP00000466028.1:p.Ser61Pro
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1192T>C
  hgvsp: ENSP00000306335.4:p.Ser398Pro
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13015
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8264
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser398Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

19-6007772-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007772
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007772
    reference: chr 19
allele count: 1
allele frequency: 4.65809577044904e-5
allele num: 21468
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1176C>G
  hgvsp: ENSP00000306335.4:p.Ile392Met
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1101C>G
  hgvsp: ENSP00000467166.1:p.Ile367Met
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1176C>G
  hgvsp: ENSP00000352076.3:p.Ile392Met
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.163C>G
  hgvsp: ENSP00000466028.1:p.Ile55Met
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4359G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31673
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7947
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ile392Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

19-6007783-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007783
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007783
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 21404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1090T>C
  hgvsp: ENSP00000467166.1:p.Phe364Leu
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.152T>C
  hgvsp: ENSP00000466028.1:p.Phe52Leu
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1165T>C
  hgvsp: ENSP00000352076.3:p.Phe389Leu
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1165T>C
  hgvsp: ENSP00000306335.4:p.Phe389Leu
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4348A>G
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34131
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7348
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1675
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Phe389Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-6007821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007821
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007821
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 20656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-8A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-8A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-8A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-8A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-8A>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4310T>C
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30997
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7691
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1135-8A>G
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

19-6007827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007827
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007827
    reference: chr 19
allele count: 1
allele frequency: 4.913522012578617e-5
allele num: 20352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-14C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-14C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-14C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-14C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-14C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4304G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31309
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

19-6007829-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007829
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007829
    reference: chr 19
allele count: 1
allele frequency: 4.918355301987015e-5
allele num: 20332
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4302C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-16G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-16G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-16G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-16G>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-16G>C
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4443
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29431
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

19-6007830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007830
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007830
    reference: chr 19
allele count: 2
allele frequency: 9.857072449482504e-5
allele num: 20290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-17G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-17G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4301C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-17G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-17G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-17G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD

19-6007853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007853
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007853
    reference: chr 19
allele count: 1
allele frequency: 5.382710733125202e-5
allele num: 18578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-40C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-40C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-40C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-40C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4278G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-40C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22537
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20126
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum

19-6007862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007862
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007862
    reference: chr 19
allele count: 8
allele frequency: 4.479283314669653e-4
allele num: 17860
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-49C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-49C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-49C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-49C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-49C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4269G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18056
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/19-6007874-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007874
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007873
    reference: chr 19
allele count: 2
allele frequency: 1.196029183112068e-4
allele num: 16722
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4256delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-62delT
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-62delT
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-62delT
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-62delT
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-62delT
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  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 quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14851
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3482
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: CA
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-6007899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007899
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007899
    reference: chr 19
allele count: 1
allele frequency: 7.60225026607876e-5
allele num: 13154
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-86C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-86C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-86C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1292C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-86C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4232G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-86C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9336
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-6007914-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007914
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007914
    reference: chr 19
allele count: 1
allele frequency: 8.41609156707625e-5
allele num: 11882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1277C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1135-101C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1060-101C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.122-101C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1135-101C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4217G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.268-101C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  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 quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-6007965-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007965
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007965
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 8826
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4166A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+152T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+152T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+152T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1226T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+152T>C
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+152T>C
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

19-6007973-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007973
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007973
    reference: chr 19
allele count: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+144C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1218C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4158G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+144C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+144C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+144C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+144C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

19-6007993-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6007993
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6007993
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 8724
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+124C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+124C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+124C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1198C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+124C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4138G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+124C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7927
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-6008007-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008007
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008007
    reference: chr 19
allele count: 20
allele frequency: 2.268088001814471e-3
allele num: 8818
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1184C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+110C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+110C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+110C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+110C>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4124G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+110C>G
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9179
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum

19-6008015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008015
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008015
    reference: chr 19
allele count: 4
allele frequency: 4.3535045711798e-4
allele num: 9188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+102C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+102C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+102C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1176C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+102C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4116G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+102C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  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: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8720
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-6008033-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008033
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008033
    reference: chr 19
allele count: 1
allele frequency: 1.00341159943809e-4
allele num: 9966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+84G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+84G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4098C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1158G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+84G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+84G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+84G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
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: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3659
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

19-6008040-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008040
    reference: chr 19
allele count: 7
allele frequency: 6.73076923076923e-4
allele num: 10400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+77G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+77G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+77G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+77G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1151G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4091C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+77G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  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 quality: GenotypeQuality
  all individuals: 276
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3444
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2213
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-6008041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008041
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008041
    reference: chr 19
allele count: 1
allele frequency: 9.484066767830046e-5
allele num: 10544
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+76C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+76C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+76C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+76C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4090G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+76C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1150C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9595
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

19-6008046-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008046
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008046
    reference: chr 19
allele count: 3
allele frequency: 2.717391304347826e-4
allele num: 11040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1145G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+71G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+71G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+71G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+71G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+71G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4085C>T
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11477
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3379
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-6008047-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008047
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008047
    reference: chr 19
allele count: 1
allele frequency: 8.906305664410402e-5
allele num: 11228
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+70C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1144C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+70C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4084G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+70C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+70C>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+70C>A
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2934
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS

19-6008059-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008059
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008059
    reference: chr 19
allele count: 1
allele frequency: 8.336112037345781e-5
allele num: 11996
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+58G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+58G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+58G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+58G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+58G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4072C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1132G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2792
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/19-6008081-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008081
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008081
    reference: chr 19
allele count: 1
allele frequency: 7.173601147776183e-5
allele num: 13940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+36G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+36G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1110G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+36G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+36G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+36G>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4050C>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16047
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

19-6008112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008112
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008112
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 15922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-4019G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1059+5C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1134+5C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.267+5C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1134+5C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1079C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.121+5C>T
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27277
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1134+5C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD

19-6008158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008158
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008158
    reference: chr 19
allele count: 6
allele frequency: 3.280481137233461e-4
allele num: 18290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.226G>A
  hgvsp: ENSP00000466177.1:p.Asp76Asn
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1033G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1093G>A
  hgvsp: ENSP00000306335.4:p.Asp365Asn
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.80G>A
  hgvsp: ENSP00000466028.1:p.Asp28Asn
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1093G>A
  hgvsp: ENSP00000352076.3:p.Asp365Asn
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-3973C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1018G>A
  hgvsp: ENSP00000467166.1:p.Asp340Asn
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5368
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp365Asn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

19-6008162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008162
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008162
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 18448
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1014G>A
  hgvsp: ENST00000592546.1:c.1014G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1089G>A
  hgvsp: ENST00000303657.5:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.222G>A
  hgvsp: ENST00000589742.1:c.222G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1089G>A
  hgvsp: ENST00000359161.3:c.1089G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.76G>A
  hgvsp: ENST00000589340.1:c.76G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1029G>A
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-3969C>T
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13776
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu363Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP

19-6008165-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008165
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008165
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 18588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.73A>T
  hgvsp: ENST00000589340.1:c.73A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1011A>T
  hgvsp: ENST00000592546.1:c.1011A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-3966T>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1026A>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1086A>T
  hgvsp: ENST00000303657.5:c.1086A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.219A>T
  hgvsp: ENST00000589742.1:c.219A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1086A>T
  hgvsp: ENST00000359161.3:c.1086A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29852
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14736
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  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 quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27973
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr362Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

19-6008173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008173
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008173
    reference: chr 19
allele count: 19
allele frequency: 9.834368530020703e-4
allele num: 19320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1078G>A
  hgvsp: ENSP00000352076.3:p.Gly360Ser
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.211G>A
  hgvsp: ENSP00000466177.1:p.Gly71Ser
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.65G>A
  hgvsp: ENSP00000466028.1:p.Gly23Ser
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-3958C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1003G>A
  hgvsp: ENSP00000467166.1:p.Gly335Ser
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1078G>A
  hgvsp: ENSP00000306335.4:p.Gly360Ser
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1018G>A
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27886
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4932
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17801
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26461
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5988
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly360Ser
num of homozygotes: 1
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

19-6008174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008174
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008174
    reference: chr 19
allele count: 3
allele frequency: 1.528896136989094e-4
allele num: 19622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.1002C>T
  hgvsp: ENST00000592546.1:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1077C>T
  hgvsp: ENST00000359161.3:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.210C>T
  hgvsp: ENST00000589742.1:c.210C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.64C>T
  hgvsp: ENST00000589340.1:c.64C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1017C>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1077C>T
  hgvsp: ENST00000303657.5:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-3957G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18596
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp359Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

19-6008178-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008178
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008178
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 20156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1013A>T
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.206A>T
  hgvsp: ENSP00000466177.1:p.Gln69Leu
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.998A>T
  hgvsp: ENSP00000467166.1:p.Gln333Leu
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1073A>T
  hgvsp: ENSP00000352076.3:p.Gln358Leu
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-3953T>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.60A>T
  hgvsp: ENSP00000466028.1:p.Gln21Leu
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1073A>T
  hgvsp: ENSP00000306335.4:p.Gln358Leu
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20310
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24850
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln358Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/19-6008188-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 6008188
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 6008188
    reference: chr 19
allele count: 322
allele frequency: 1.508338017612891e-2
allele num: 21348
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466028
  ensembl transcript: ENST00000589340
  gene symbol: RFX2
  hgvsc: ENST00000589340.1:c.50T>G
  hgvsp: ENSP00000466028.1:p.Phe18Val
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000306335
  ensembl transcript: ENST00000303657
  gene symbol: RFX2
  hgvsc: ENST00000303657.5:c.1063T>G
  hgvsp: ENSP00000306335.4:p.Phe355Val
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000087903
  ensembl transcript: ENST00000588021
  gene symbol: RFX2
  hgvsc: ENST00000588021.1:n.1003T>G
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000466177
  ensembl transcript: ENST00000589742
  gene symbol: RFX2
  hgvsc: ENST00000589742.1:c.196T>G
  hgvsp: ENSP00000466177.1:p.Phe66Val
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000352076
  ensembl transcript: ENST00000359161
  gene symbol: RFX2
  hgvsc: ENST00000359161.3:c.1063T>G
  hgvsp: ENSP00000352076.3:p.Phe355Val
  variant of: http://identifiers.org/hgnc/9983
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000266983
  ensembl transcript: ENST00000587836
  gene symbol: CTC-232P5.1
  hgvsc: ENST00000587836.1:n.113-3943A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000087903
  ensembl protein: ENSP00000467166
  ensembl transcript: ENST00000592546
  gene symbol: RFX2
  hgvsc: ENST00000592546.1:c.988T>G
  hgvsp: ENSP00000467166.1:p.Phe330Val
  variant of: http://identifiers.org/hgnc/9983
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2950
  bin: 1.25e1
  variant carriers: 125
hgvs: p.Phe355Val
num of homozygotes: 11
reference allele: A

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4249
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65794
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.243e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 8.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

FS
type: SiteQuality
SIO_000300: 4.147e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.781456e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
all individuals: 283
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14994
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65978
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: -4.0e-4

BaseQRankSum
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SIO_000300: 9.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-1

FS
type: SiteQuality
SIO_000300: 1.063e0

QD
type: SiteQuality
SIO_000300: 1.395e1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 2.639567110993797e-4
allele num: 15154
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66070
num of homozygotes: 0

QD
type: SiteQuality
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.895e0

BaseQRankSum
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SIO_000300: -1.817e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.015218502812114e-5
allele num: 66498
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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QD
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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MQRankSum
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SIO_000300: -8.62e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.82e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ClippingRankSum
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SIO_000300: 8.9e-2

MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.831762e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.111e0

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

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

European (Non-Finnish)
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allele count: 1
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allele num: 66592
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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Other
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East Asian
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allele frequency: 1.16144018583043e-4
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.003093185981561e-5
allele num: 66598
num of homozygotes: 0

Latino
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allele frequency: 2.615974886641088e-4
allele num: 11468
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European (Finnish)
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African
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Other
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East Asian
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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allele num: 66620
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South Asian
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MQ
type: SiteQuality
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VQSLOD
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MQRankSum
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.604e0

QD
type: SiteQuality
SIO_000300: 1.963e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7222
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.744591765526867e-4
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 8.823e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.175e1

VQSLOD
type: SiteQuality
SIO_000300: -3.155e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.833223e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

GenotypeQuality
all individuals: 183
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4279
bin: 9.75e1
variant carriers: 61

South Asian
type: Population
allele count: 1
allele frequency: 6.078288353999514e-5
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.489792357354738e-4
allele num: 11462
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.81139337952271e-4
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 50
allele frequency: 7.503902029055108e-4
allele num: 66632
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.101e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.836448e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 1.247e1

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.293e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

FS
type: SiteQuality
SIO_000300: 2.534e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.832817e6

GenotypeQuality
all individuals: 203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 266
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variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.89e0

VQSLOD
type: SiteQuality
SIO_000300: -2.486e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.57e-1

QD
type: SiteQuality
SIO_000300: 1.114e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.143e0

FS
type: SiteQuality
SIO_000300: 5.952e0

DP
type: SiteQuality
SIO_000300: 1.832757e6

GenotypeQuality
all individuals: 187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 2.321e0

MQRankSum
type: SiteQuality
SIO_000300: -1.306e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

QD
type: SiteQuality
SIO_000300: 1.22e1

DP
type: SiteQuality
SIO_000300: 1.832737e6

GenotypeQuality
all individuals: 1019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 7206
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 7.95e0

VQSLOD
type: SiteQuality
SIO_000300: -2.811e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.384e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

DP
type: SiteQuality
SIO_000300: 1.831234e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.74e-1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 202
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GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163873370577281e-4
allele num: 8592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

DP
type: SiteQuality
SIO_000300: 1.831162e6

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

FS
type: SiteQuality
SIO_000300: 5.979e0

VQSLOD
type: SiteQuality
SIO_000300: 8.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 1289
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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SIO_000300: -2.708e0

QD
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VQSLOD
type: SiteQuality
SIO_000300: -9.078000000000001e-1

MQ
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SIO_000300: 5.898e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 8546
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507068149621726e-5
allele num: 66354
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

FS
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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MQ
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SIO_000300: 5.745e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

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

African
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allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65856
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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BaseQRankSum
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -1.031e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11304
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.524669146795145e-5
allele num: 65588
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8484
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.798155e6

MQ
type: SiteQuality
SIO_000300: 5.599e1

QD
type: SiteQuality
SIO_000300: 1.684e1

BaseQRankSum
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SIO_000300: 1.29e0

ReadPosRankSum
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SIO_000300: 1.33e-1

MQRankSum
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SIO_000300: -1.56e0

InbreedingCoeff
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SIO_000300: 1.28e-2

VQSLOD
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FS
type: SiteQuality
SIO_000300: 4.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.885330170027679e-5
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63700
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: -2.4e-2

MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64038
num of homozygotes: 0

South Asian
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6284
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African
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MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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MQ
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QD
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8514
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Other
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Latino
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African
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allele num: 9710
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South Asian
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European (Non-Finnish)
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European (Finnish)
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QD
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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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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variant carriers: 0

European (Non-Finnish)
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Other
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Latino
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African
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European (Finnish)
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South Asian
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East Asian
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FS
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QD
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Other
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South Asian
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Latino
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ClippingRankSum
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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DP
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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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East Asian
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European (Finnish)
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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Latino
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South Asian
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ReadPosRankSum
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QD
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VQSLOD
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DP
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MQRankSum
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.361285053090117e-4
allele num: 7346
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

DP
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MQRankSum
type: SiteQuality
SIO_000300: -1.107e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.27e-2

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.25e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

VQSLOD
type: SiteQuality
SIO_000300: -2.121e0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2680
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 1.634877384196185e-3
allele num: 7340
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.065e1

MQRankSum
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SIO_000300: 4.19e-1

MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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SIO_000300: -8.15e-2

FS
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ReadPosRankSum
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SIO_000300: 2.07e-1

VQSLOD
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SIO_000300: 1.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.963e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 3.09384e5

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8000
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14386
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.16822429906542e-3
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62802
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: -8.483000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.74e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

FS
type: SiteQuality
SIO_000300: 2.373e0

DP
type: SiteQuality
SIO_000300: 1.674971e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.489670575097711e-4
allele num: 14328
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10868
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.397952655150352e-5
allele num: 62520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.447e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.159e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.662618e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7798
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 7.847053787986874e-4
allele num: 14018
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61704
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.62269e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.742e0

QD
type: SiteQuality
SIO_000300: 1.377e1

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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 2720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.172332942555686e-4
allele num: 8530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

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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bin: 5.75e1
variant carriers: 2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 382
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African
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allele count: 0
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Other
type: Population
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allele frequency: 1.063829787234043e-2
allele num: 188
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.322401481089659e-4
allele num: 7562
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8580
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East Asian
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allele count: 5
allele frequency: 7.64525993883792e-3
allele num: 654
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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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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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 1.301744337412132e-4
allele num: 7682
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
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African
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East Asian
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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South Asian
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allele frequency: 1.273560876209883e-4
allele num: 7852
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QD
type: SiteQuality
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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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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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele num: 2790
num of homozygotes: 0

Latino
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South Asian
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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FS
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QD
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 152

GenotypeQuality
all individuals: 60
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GenotypeQuality
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bin: 2.25e1
variant carriers: 22

GenotypeQuality
all individuals: 1337
bin: 6.75e1
variant carriers: 16

GenotypeQuality
all individuals: 7841
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 217
bin: 7.75e1
variant carriers: 9

Latino
type: Population
allele count: 3
allele frequency: 6.912442396313364e-3
allele num: 434
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.173601147776184e-4
allele num: 2788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 1.891831738259515e-3
allele num: 8986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.154639175257732e-3
allele num: 194
num of homozygotes: 0

East Asian
type: Population
allele count: 77
allele frequency: 1.026666666666667e-1
allele num: 750
num of homozygotes: 2

South Asian
type: Population
allele count: 66
allele frequency: 8.354430379746836e-3
allele num: 7900
num of homozygotes: 1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.47e-2

FS
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

QD
type: SiteQuality
SIO_000300: 1.312e1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.72e-1

DP
type: SiteQuality
SIO_000300: 4.17135e5

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 5.494505494505495e-3
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2794
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.265502404454569e-4
allele num: 7902
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.834e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.15553e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.38e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.10938540048813e-4
allele num: 9014
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.36e-2

FS
type: SiteQuality
SIO_000300: 7.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.839e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.112e1

DP
type: SiteQuality
SIO_000300: 4.16124e5

MQ
type: SiteQuality
SIO_000300: 5.943e1

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10772
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1367
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.288659793814433e-3
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

QD
type: SiteQuality
SIO_000300: 8.109999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.2959e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.11e-2

FS
type: SiteQuality
SIO_000300: 6.154e0

VQSLOD
type: SiteQuality
SIO_000300: -1.408e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

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

GenotypeQuality
all individuals: 73
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.03e0

DP
type: SiteQuality
SIO_000300: 4.29168e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.15e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.116e0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8240
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.329787234042553e-3
allele num: 752
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.16442e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.76e0

VQSLOD
type: SiteQuality
SIO_000300: -9.774e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.63e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.009e0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1361
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8234
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.463e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

DP
type: SiteQuality
SIO_000300: 4.07411e5

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

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2347
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 414
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.71e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.368e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.288e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.50477e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.56e0

GenotypeQuality
all individuals: 195
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29051
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.315443304393581e-4
allele num: 7602
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.159e0

QD
type: SiteQuality
SIO_000300: 1.263e1

VQSLOD
type: SiteQuality
SIO_000300: -1.967e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.95e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: -5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.729999999999999e-2

DP
type: SiteQuality
SIO_000300: 3.36975e5

GenotypeQuality
all individuals: 1931
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 3.37286e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.71e-2

QD
type: SiteQuality
SIO_000300: 7.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.098e0

GenotypeQuality
all individuals: 285
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1265
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7233
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.318571759795966e-4
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7564
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.75e-2

DP
type: SiteQuality
SIO_000300: 3.35477e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.151e-1

FS
type: SiteQuality
SIO_000300: 5.466e0

QD
type: SiteQuality
SIO_000300: 1.407e1

GenotypeQuality
all individuals: 411
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.517450682852807e-4
allele num: 6590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 2.72519e5

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.082e0

VQSLOD
type: SiteQuality
SIO_000300: -4.523e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.240000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.236e1

FS
type: SiteQuality
SIO_000300: 5.873e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

GenotypeQuality
all individuals: 104
bin: 1.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 2.556610664718773e-3
allele num: 2738
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.283697047496791e-4
allele num: 7790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6128
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.959e1

DP
type: SiteQuality
SIO_000300: 2.53878e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.412e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

FS
type: SiteQuality
SIO_000300: 1.465e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.859999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 170
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 7.44047619047619e-4
allele num: 2688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.146e1

QD
type: SiteQuality
SIO_000300: 1.522e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.58e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.30161e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.598e0

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.67e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.625346901017577e-4
allele num: 2162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.072e0

FS
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

DP
type: SiteQuality
SIO_000300: 1.74618e5

VQSLOD
type: SiteQuality
SIO_000300: -2.819e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.62e-2

QD
type: SiteQuality
SIO_000300: 3.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

GenotypeQuality
all individuals: 373
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2084
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.132832080200501e-4
allele num: 3192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5738
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.199999999999999e0

DP
type: SiteQuality
SIO_000300: 1.60479e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.588e0

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
all individuals: 481
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.57e0

VQSLOD
type: SiteQuality
SIO_000300: -7.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.41e-2

DP
type: SiteQuality
SIO_000300: 1.27181e5

GenotypeQuality
all individuals: 329
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 4814
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.829654782116582e-4
allele num: 3534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1084
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.841e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.83e-1

DP
type: SiteQuality
SIO_000300: 1.24274e5

QD
type: SiteQuality
SIO_000300: 7.6e0

FS
type: SiteQuality
SIO_000300: 2.632e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 128
bin: 6.75e1
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 81
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variant carriers: 0

GenotypeQuality
all individuals: 83
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GenotypeQuality
all individuals: 18
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.771e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.365e0

QD
type: SiteQuality
SIO_000300: 1.335e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.73e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

DP
type: SiteQuality
SIO_000300: 1.24867e5

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 294
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 8136
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1328
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GenotypeQuality
all individuals: 528
bin: 3.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 5.0e-3
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
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African
type: Population
allele count: 17
allele frequency: 2.068126520681265e-2
allele num: 822
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.346720214190094e-4
allele num: 2988
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.257336343115124e-4
allele num: 4430
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.74e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.243e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.25132e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

GenotypeQuality
all individuals: 132
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
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GenotypeQuality
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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: 108
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
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East Asian
type: Population
allele count: 1
allele frequency: 3.731343283582089e-3
allele num: 268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3012
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 6.29987400251995e-4
allele num: 4762
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.34e-1

FS
type: SiteQuality
SIO_000300: 7.451e0

DP
type: SiteQuality
SIO_000300: 1.30221e5

VQSLOD
type: SiteQuality
SIO_000300: -1.454e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.91e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-1

QD
type: SiteQuality
SIO_000300: 1.493e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

GenotypeQuality
all individuals: 174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9122
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GenotypeQuality
all individuals: 309
bin: 3.75e1
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GenotypeQuality
all individuals: 268
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 163
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GenotypeQuality
all individuals: 1937
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GenotypeQuality
all individuals: 12
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.86150409530901e-4
allele num: 5372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3196
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.483e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.01e-2

DP
type: SiteQuality
SIO_000300: 1.40662e5

MQRankSum
type: SiteQuality
SIO_000300: -1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.749e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.161e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.868e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.12636695018226e-3
allele num: 3292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

QD
type: SiteQuality
SIO_000300: 1.211e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.633e0

DP
type: SiteQuality
SIO_000300: 1.48015e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.21e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

GenotypeQuality
all individuals: 494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1494
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.739130434782609e-4
allele num: 5750
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.50626e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: -7.274e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.4742e1

QD
type: SiteQuality
SIO_000300: 1.306e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.22e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 4.9800796812749e-4
allele num: 6024
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.185e0

QD
type: SiteQuality
SIO_000300: 1.089e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

DP
type: SiteQuality
SIO_000300: 1.5696e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.627e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10384
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.0351966873706e-3
allele num: 966
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6142
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3544
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.368e0

DP
type: SiteQuality
SIO_000300: 1.59661e5

QD
type: SiteQuality
SIO_000300: 1.033e1

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.270000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.454e0

GenotypeQuality
all individuals: 296
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2779
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11422
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 3458
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.666666666666667e-4
allele num: 3750
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 1.73842e5

FS
type: SiteQuality
SIO_000300: 6.726e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.667e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.53e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
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variant carriers: 0

GenotypeQuality
all individuals: 77
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variant carriers: 0

GenotypeQuality
all individuals: 10
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GenotypeQuality
all individuals: 79
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.34698275862069e-4
allele num: 7424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 300
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1364
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.478e1

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.512e0

DP
type: SiteQuality
SIO_000300: 2.11499e5

FS
type: SiteQuality
SIO_000300: 5.244e0

VQSLOD
type: SiteQuality
SIO_000300: -1.449e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.46e-2

DP
type: SiteQuality
SIO_000300: 2.63176e5

QD
type: SiteQuality
SIO_000300: 1.21e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.910323253388947e-4
allele num: 7672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2270
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.250495891187305e-4
allele num: 7058
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.836e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.38e-2

QD
type: SiteQuality
SIO_000300: 1.285e1

DP
type: SiteQuality
SIO_000300: 3.60119e5

FS
type: SiteQuality
SIO_000300: 2.436e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

African
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: 176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.336e1

VQSLOD
type: SiteQuality
SIO_000300: -2.752e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.7003e5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 665
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variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.742e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.75482e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.96e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.79e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 5.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

GenotypeQuality
all individuals: 53
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 16288
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 646
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1435
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 164
bin: 7.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7382
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.448453608247423e-3
allele num: 7760
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.97656e5

MQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

QD
type: SiteQuality
SIO_000300: 1.418e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.39e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 173
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6146
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 3.780241935483871e-4
allele num: 7936
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.27e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

FS
type: SiteQuality
SIO_000300: 1.215e0

DP
type: SiteQuality
SIO_000300: 4.0444e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

QD
type: SiteQuality
SIO_000300: 1.506e1

VQSLOD
type: SiteQuality
SIO_000300: -1.152e0

GenotypeQuality
all individuals: 19080
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6178
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1306
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7318
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.96e-2

DP
type: SiteQuality
SIO_000300: 4.16011e5

QD
type: SiteQuality
SIO_000300: 7.17e0

VQSLOD
type: SiteQuality
SIO_000300: -1.856e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1